References
-
Annunen,S., Korkko,J., Czarny,M., Warman,M.L., Brunner,H.G., Kaariainen,H., Mulliken,J.B., Tranebjaerg,L., Brooks,D.G., Cox,G.F., Cruysberg,J.R., Curtis,M.A., Davenport,S.L., Friedrich,C.A., Kaitila,I., Krawczynski,M.R., Latos-Bielenska,A., Mukai,S., Olsen,B.R., Shinno,N., Somer,M., Vikkula,M., Zlotogora,J., Prockop,D.J., and Ala-Kokko,L. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. 1999; Am.J.Hum.Genet. 65: 974-983.
Goto Top
-
Arts,H.H., Doherty,D., van Beersum,S.E., Parisi,M.A., Letteboer,S.J., Gorden,N.T., Peters,T.A., Marker,T., Voesenek,K., Kartono,A., Ozyurek,H., Farin,F.M., Kroes,H.Y., Wolfrum,U., Brunner,H.G., Cremers,F.P., Glass,I.A., Knoers,N.V., and Roepman,R. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. 2007; Nat.Genet. 39: 882-888.
Goto Top
-
Attree,O., Olivos,I.M., Okabe,I., Bailey,L.C., Nelson,D.L., Lewis,R.A., McInnes,R.R., and Nussbaum,R.L. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. 1992; Nature. 358: 239-242. Goto Top
-
Ayala-Ramirez,R., Graue-Wiechers,F., Robredo,V., Amato-Almanza,M., Horta-Diez,I., and Zenteno,J.C. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. 2006; Mol.Vis. 12:1483-9.: 1483-1489.
Goto Top
-
Baala,L., Romano,S., Khaddour,R., Saunier,S., Smith,U.M., Audollent,S., Ozilou,C., Faivre,L., Laurent,N., Foliguet,B., Munnich,A., Lyonnet,S., Salomon,R., Encha-Razavi,F., Gubler,M.C., Boddaert,N., de,L.P., Johnson,C.A., Vekemans,M., Antignac,C., and ttie-Bitach,T. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 2007; Am.J.Hum.Genet. 80: 186-194.
Goto Top
-
Barrientos,A., Casademont,J., Saiz,A., Cardellach,F., Volpini,V., Solans,A., Tolosa,E., Urbano-Marquez,A., Estivill,X., and Nunes,V. Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion. 1996; Am.J.Hum.Genet. 58: 963-970.
Goto Top
-
Barrientos,A., Volpini,V., Casademont,J., Genis,D., Manzanares,J.M., Ferrer,I., Corral,J., Cardellach,F., Urbano-Marquez,A., Estivill,X., and Nunes,V. A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. 1996; J Clin Invest. 97: 1570-1576.
Goto Top
-
Berger,W., Meindl,A., van de Pol,T.J., Cremers,F.P., Ropers,H.H., Doerner,C., Monaco,A., Bergen,A.A.B., Lebo,R., Warburg,M., Zergollern,L., Lorenz,B., Gal,A., Bleeker-Wagemakers,E.M., and Meitinger,T. Isolation of a candidate gene for Norrie disease by positional cloning. 1992; Nat.Genet. 1: 199-203.
Goto Top
-
Bespalova,I.N., Van Camp,G., Bom,S.J., Brown,D.J., Cryns,K., Dewan,A.T., Erson,A.E., Flothmann,K., Kunst,H.P., Kurnool,P., Sivakumaran,T.A., Cremers,C.W., Leal,S.M., Burmeister,M., and Lesperance,M.M. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. 2001; Hum Mol.Genet. 10: 2501-2508.
Goto Top
-
Bielas,S.L., Silhavy,J.L., Brancati,F., Kisseleva,M.V., Al-Gazali,L., Sztriha,L., Bayoumi,R.A., Zaki,M.S., bdel-Aleem,A., Rosti,R.O., Kayserili,H., Swistun,D., Scott,L.C., Bertini,E., Boltshauser,E., Fazzi,E., Travaglini,L., Field,S.J., Gayral,S., Jacoby,M., Schurmans,S., Dallapiccola,B., Majerus,P.W., Valente,E.M., and Gleeson,J.G. Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 2009; Nat.Genet. 41: 1032-1036.
Goto Top
-
Braverman,N., Steel,G., Lin,P., Moser,A., Moser,H., and Valle,D. PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter. 2000; Genomics. 63: 181-192.
Goto Top
-
Caridi,G., Murer,L., Bellantuono,R., Sorino,P., Caringella,D.A., Gusmano,R., and Ghiggeri,G.M. Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus. 1998; Am J Kidney Dis. 32: 1059-1062.
Goto Top
-
Chen,Z.Y., Hendriks,R.W., Jobling,M.A., Powell,J.F., Breakefield,X.O., Sims,K.B., and Craig,I.W. Isolation and characterization of a candidate gene for Norrie disease. 1992; Nat.Genet. 1: 204-208.
Goto Top
-
Coene,K.L., Roepman,R., Doherty,D., Afroze,B., Kroes,H.Y., Letteboer,S.J., Ngu,L.H., Budny,B., van,W.E., Gorden,N.T., Azhimi,M., Thauvin-Robinet,C., Veltman,J.A., Boink,M., Kleefstra,T., Cremers,F.P., van,B.H., and de Brouwer,A.P. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. 2009; Am.J.Hum.Genet. 85: 465-481.
Goto Top
-
Collin,G.B., Marshall,J.D., Boerkoel,C.F., Levin,A.V., Weksberg,R., Greenberg,J., Michaud,J.L., Naggert,J.K., and Nishina,P.M. Alstrom syndrome: further evidence for linkage to human chromosome 2p13. 1999; Hum.Genet. 105: 474-479.
Goto Top
-
Collin,G.B., Marshall,J.D., Ikeda,A., So,W.V., Russell-Eggitt,I., Maffei,P., Beck,S., Boerkoel,C.F., Sicolo,N., Martin,M., Nishina,P.M., and Naggert,J.K. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. 2002; Nat.Genet. 31: 74-78.
Goto Top
-
Crimi,M., Galbiati,S., Perini,M.P., Bordoni,A., Malferrari,G., Sciacco,M., Biunno,I., Strazzer,S., Moggio,M., Bresolin,N., and Comi,G.P. A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness. 2003; Neurology. 60: 1200-1203.
Goto Top
-
David,G., Durr,A., Stevanin,G., Cancel,G., Abbas,N., Benomar,A., Belal,S., Lebre,A.S., Abada Bendib,M., Grid,D., Holmberg,M., Yahyaoui,M., Hentati,F., Chkili,T., Agid,Y., and Brice,A. Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). 1998; Hum.Mol.Genet. 7: 165-170.
Goto Top
-
Del Favero,J., Krols,L., Michalik,A., Theuns,J., Lofgren,A., Goossens,D., Wehnert,A., Van den Bossche,D., Van Zand,K., Backhovens,H., van Regenmorter,N., Martin,J.J., and Van Broeckhoven,C. Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. 1998; Hum.Mol.Genet. 7: 177-186.
Goto Top
-
Delous,M., Baala,L., Salomon,R., Laclef,C., Vierkotten,J., Tory,K., Golzio,C., Lacoste,T., Besse,L., Ozilou,C., Moutkine,I., Hellman,N.E., Anselme,I., Silbermann,F., Vesque,C., Gerhardt,C., Rattenberry,E., Wolf,M.T., Gubler,M.C., Martinovic,J., Encha-Razavi,F., Boddaert,N., Gonzales,M., Macher,M.A., Nivet,H., Champion,G., Bertheleme,J.P., Niaudet,P., McDonald,F., Hildebrandt,F., Johnson,C.A., Vekemans,M., Antignac,C., Ruther,U., Schneider-Maunoury,S., ttie-Bitach,T., and Saunier,S. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. 2007; Nat.Genet. 39: 875-881.
Goto Top
-
Downey,L.M., Keen,T.J., Jalili,I.K., McHale,J., Aldred,M.J., Robertson,S.P., Mighell,A., Fayle,S., Wissinger,B., and Inglehearn,C.F. Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate. 2002; Eur.J.Hum.Genet. 10: 865-869.
Goto Top
-
Edmunds,L.E., Francis,P.J., Kelsell,R.E., Hunt,D., and Moore,A.T. North Carolina Macula Dystrophy and Sensorineural Deafness: exclusion of MCDR1 locus on 6q. 2001; Invest.Ophthalmol.Vis.Sci. 42: S638 Goto Top
-
El Shanti,H., Lidral,A.C., Jarrah,N., Druhan,L., and Ajlouni,K. Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q. 2000; Am.J.Hum.Genet. 66: 1229-1236.
Goto Top
-
Go,S.L., Maugeri,A., Mulder,J.J., van Driel,M.A., Cremers,F.P., and Hoyng,C.B. Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene. 2003; Invest.Ophthalmol.Vis.Sci. 44: 4035-4043.
Goto Top
-
Gorden,N.T., Arts,H.H., Parisi,M.A., Coene,K.L., Letteboer,S.J., van Beersum,S.E., Mans,D.A., Hikida,A., Eckert,M., Knutzen,D., Alswaid,A.F., Ozyurek,H., Dibooglu,S., Otto,E.A., Liu,Y., Davis,E.E., Hutter,C.M., Bammler,T.K., Farin,F.M., Dorschner,M., Topcu,M., Zackai,E.H., Rosenthal,P., Owens,K.N., Katsanis,N., Vincent,J.B., Hildebrandt,F., Rubel,E.W., Raible,D.W., Knoers,N.V., Chance,P.F., Roepman,R., Moens,C.B., Glass,I.A., and Doherty,D. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 2008; Am.J.Hum.Genet. 83: 559-571.
Goto Top
-
Grand,M.G., Kaine,J., Fulling,K., Atkinson,J., Dowton,S.B., Farber,M., Craver,J., and Rice,K. Cerebroretinal vasculopathy. A new hereditary syndrome. 1988; Ophthalmology. 95: 649-659.
Goto Top
-
Haider,N.B., Carmi,R., Shalev,H., Sheffield,V.C., and Landau,D. A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping. 1998; Am J Hum Genet. 63: 1404-1410.
Goto Top
-
Hearn,T., Renforth,G.L., Spalluto,C., Hanley,N.A., Piper,K., Brickwood,S., White,C., Connolly,V., Taylor,J.F., Russell-Eggitt,I., Bonneau,D., Walker,M., and Wilson,D.I. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. 2002; Nat.Genet. 31: 79-83.
Goto Top
-
Herzberg,N.H., van Schooneveld,M.J., Bleeker Wagemakers,E.M., Zwart,R., Cremers,F.P., van der Knaap,M.S., Bolhuis,P.A., and de Visser,M. Kearns-Sayre syndrome with a phenocopy of choroideremia instead of pigmentary retinopathy. 1993; Neurology. 43: 218-221.
Goto Top
-
Higgins,J.J., Morton,D.H., and Loveless,J.M. Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32. 1999; Neurology. 52: 146-150.
Goto Top
-
Hol,F.A., Hamel,B.C., Geurds,M.P., Hansmann,I., Nabben,F.A., Daniels,O., and Mariman,E.C. Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family. 1995; Hum.Genet. 95: 687-690.
Goto Top
-
Holt,I.J., Harding,A.E., Petty,R.K., and Morgan Hughes,J.A. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. 1990; Am.J.Hum.Genet. 46: 428-433.
Goto Top
-
Inoue,H., Tanizawa,Y., Wasson,J., Behn,P., Kalidas,K., Bernal-Mizrachi,E., Mueckler,M., Marshall,H., Donis-Keller,H., Crock,P., Rogers,D., Mikuni,M., Kumashiro,H., Higashi,K., Sobue,G., Oka,Y., and Permutt,M.A. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). 1998; Nat.Genet. 20: 143-148.
Goto Top
-
Jansen,G.A., Ofman,R., Ferdinandusse,S., Ijlst,L., Muijsers,A.O., Skjeldal,O.H., Stokke,O., Jakobs,C., Besley,G.T., Wraith,J.E., and Wanders,R.J. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. 1997; Nat.Genet. 17: 190-193.
Goto Top
-
Jansen,G.A., Wanders,R.J., Watkins,P.A., and Mihalik,S.J. Phytanoyl-coenzyme A hydroxylase deficiency -- the enzyme defect in Refsum's disease. 1997; N.Engl.J Med. 337: 133-134.
Goto Top
-
Jen,J., Cohen,A.H., Yue,Q., Stout,J.T., Vinters,H.V., Nelson,S., and Baloh,R.W. Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). 1997; Neurology. 49: 1322-1330.
Goto Top
-
Jin,H., May,M., Tranebjaerg,L., Kendall,E., Fontan,G., Jackson,J., Subramony,S.H., Arena,F., Lubs,H., Smith,S., Stevenson,R., Schwartz,C., and Vetrie,D. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. 1996; Nat.Genet. 14: 177-180.
Goto Top
-
Johns,D.R. Improved molecular-genetic diagnosis of Leber's hereditary optic neuropathy. 1990; N.Engl.J.Med. 323: 1488-1489.
Goto Top
-
Kamath,B.M., Loomes,K.M., Oakey,R.J., Emerick,K.E., Conversano,T., Spinner,N.B., Piccoli,D.A., and Krantz,I.D. Facial features in Alagille syndrome: specific or cholestasis facies? 2002; Am.J.Med.Genet. 112: 163-170.
Goto Top
-
Keeler,L.C., Marsh,S.E., Leeflang,E.P., Woods,C.G., Sztriha,L., Al Gazali,L., Gururaj,A., and Gleeson,J.G. Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. 2003; Am J Hum Genet. 73: 656-662.
Goto Top
-
Kenna,P., Mansergh,F., Millington Ward,S., Erven,A., Kumar Singh,R., Brennan,R., Farrar,G.J., and Humphries,P. Clinical and molecular genetic characterisation of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness. 1997; Br.J.Ophthalmol. 81: 207-213.
Goto Top
-
Khanna,H., Davis,E.E., Murga-Zamalloa,C.A., Estrada-Cuzcano,A., Lopez,I., den Hollander,A.I., Zonneveld,M.N., Othman,M.I., Waseem,N., Chakarova,C.F., Maubaret,C., az-Font,A., MacDonald,I., Muzny,D.M., Wheeler,D.A., Morgan,M., Lewis,L.R., Logan,C.V., Tan,P.L., Beer,M.A., Inglehearn,C.F., Lewis,R.A., Jacobson,S.G., Bergmann,C., Beales,P.L., ttie-Bitach,T., Johnson,C.A., Otto,E.A., Bhattacharya,S.S., Hildebrandt,F., Gibbs,R.A., Koenekoop,R.K., Swaroop,A., and Katsanis,N. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. 2009; Nat.Genet. 41: 739-745.
Goto Top
-
Koehler,C.M., Leuenberger,D., Merchant,S., Renold,A., Junne,T., and Schatz,G. Human deafness dystonia syndrome is a mitochondrial disease. 1999; Proc.Natl.Acad Sci U.S A. 96: 2141-2146.
Goto Top
-
Leahey,A.M., Charnas,L.R., and Nussbaum,R.L. Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. 1993; Hum.Mol.Genet. 2: 461-463.
Goto Top
-
Li,P.H., Shu,S.G., Yang,C.H., Lo,F.C., Wen,M.C., and Chi,C.S. Alagille syndrome with interstitial 20p deletion derived from maternal ins(7;20). 1996; Am.J.Med.Genet. 63: 537-541.
Goto Top
-
Macari,F., Lautier,C., Girardet,A., Dadoun,F., Darmon,P., Dutour,A., Renard,E., Bouvagnet,P., Claustres,M., Oliver,C., and Grigorescu,F. Refinement of genetic localization of the Alstrom syndrome on chromosome 2p12-13 by linkage analysis in a North African family. 1998; Hum.Genet. 103: 658-661.
Goto Top
-
Martin,S., Richards,A.J., Yates,J.R., Scott,J.D., Pope,M., and Snead,M.P. Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity. 1999; Eur.J Hum Genet. 7: 807-814.
Goto Top
-
Mihalik,S.J., Morrell,J.C., Kim,D., Sacksteder,K.A., Watkins,P.A., and Gould,S.J. Identification of PAHX, a Refsum disease gene. 1997; Nat.Genet. 17: 185-189.
Goto Top
-
Mitchell,S.J., McHale,D.P., Campbell,D.A., Lench,N.J., Mueller,R.F., Bundey,S.E., and Markham,A.F. A syndrome of severe mental retardation, spasticity, and tapetoretinal degeneration linked to chromosome 15q24. 1998; Am.J.Hum.Genet. 63: 1070-1076.
Goto Top
-
Motley,A.M., Brites,P., Gerez,L., Hogenhout,E., Haasjes,J., Benne,R., Tabak,H.F., Wanders,R.J., and Waterham,H.R. Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. 2002; Am.J.Hum.Genet. 70: 612-624. Goto Top
-
Nadal,N., Rolland,M.O., Tranchant,C., Reutenauer,L., Gyapay,G., Warter,J.M., Mandel,J.L., and Koenig,M. Localization Of Refsum Disease With Increased Pipecolic Acidaemia To Chromosome 10p By Homozygosity Mapping And Carrier Testing In A Single Nuclear Family. 1995; Hum.Mol.Genet. 4: 1963-1966.
Goto Top
-
Nakase,H., Moraes,C.T., Rizzuto,R., Lombes,A., Dimauro,S., and Schon,E.A. Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis. 1990; Am.J.Hum.Genet. 46: 418-427.
Goto Top
-
Noor,A., Windpassinger,C., Patel,M., Stachowiak,B., Mikhailov,A., Azam,M., Irfan,M., Siddiqui,Z.K., Naeem,F., Paterson,A.D., Lutfullah,M., Vincent,J.B., and Ayub,M. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. 2008; Am.J.Hum.Genet. 82: 1011-1018.
Goto Top
-
O'toole,J.F., Otto,E.A., Frishberg,Y., and Hildebrandt,F. Retinitis pigmentosa and renal failure in a patient with mutations in INVS. 2006; Nephrol.Dial.Transplant. 21: 1989-1991.
Goto Top
-
Oda,T., Elkahloun,A.G., Pike,B.L., Okajima,K., Krantz,I.D., Genin,A., Piccoli,D.A., Meltzer,P.S., Spinner,N.B., Collins,F.S., and Chandrasekharappa,S.C. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. 1997; Nat.Genet. 16: 235-242.
Goto Top
-
Olbrich,H., Fliegauf,M., Hoefele,J., Kispert,A., Otto,E., Volz,A., Wolf,M.T., Sasmaz,G., Trauer,U., Reinhardt,R., Sudbrak,R., Antignac,C., Gretz,N., Walz,G., Schermer,B., Benzing,T., Hildebrandt,F., and Omran,H. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. 2003; Nat.Genet. 34: 455-459.
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-
Omran,H., Sasmaz,G., Haffner,K., Volz,A., Olbrich,H., Melkaoui,R., Otto,E., Wienker,T.F., Korinthenberg,R., Brandis,M., Antignac,C., and Hildebrandt,F. Identification of a gene locus for Senior-Loken syndrome in the region of the nephronophthisis type 3 gene. 2002; J Am Soc.Nephrol. 13: 75-79.
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-
Ophoff,R.A., DeYoung,J., Service,S.K., Joosse,M., Caffo,N.A., Sandkuijl,L.A., Terwindt,G.M., Haan,J., Van den Maagdenberg,A.M., Jen,J., Baloh,R.W., Barilla-LaBarca,M.L., Saccone,N.L., Atkinson,J.P., Ferrari,M.D., Freimer,N.B., and Frants,R.R. Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3. 2001; Am.J.Hum.Genet. 69: 447-453.
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-
Otto,E., Hoefele,J., Ruf,R., Mueller,A.M., Hiller,K.S., Wolf,M.T., Schuermann,M.J., Becker,A., Birkenhager,R., Sudbrak,R., Hennies,H.C., Nurnberg,P., and Hildebrandt,F. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. 2002; Am J Hum Genet. 71: 1161-1167.
Goto Top
-
Otto,E.A., Loeys,B., Khanna,H., Hellemans,J., Sudbrak,R., Fan,S., Muerb,U., O'toole,J.F., Helou,J., Attanasio,M., Utsch,B., Sayer,J.A., Lillo,C., Jimeno,D., Coucke,P., De Paepe,A., Reinhardt,R., Klages,S., Tsuda,M., Kawakami,I., Kusakabe,T., Omran,H., Imm,A., Tippens,M., Raymond,P.A., Hill,J., Beales,P., He,S., Kispert,A., Margolis,B., Williams,D.S., Swaroop,A., and Hildebrandt,F. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. 2005; Nat.Genet. 37: 282-288.
Goto Top
-
Otto,E.A., Schermer,B., Obara,T., O'toole,J.F., Hiller,K.S., Mueller,A.M., Ruf,R.G., Hoefele,J., Beekmann,F., Landau,D., Foreman,J.W., Goodship,J.A., Strachan,T., Kispert,A., Wolf,M.T., Gagnadoux,M.F., Nivet,H., Antignac,C., Walz,G., Drummond,I.A., Benzing,T., and Hildebrandt,F. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. 2003; Nat.Genet. 34: 413-420.
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-
Parisi,M.A., Bennett,C.L., Eckert,M.L., Dobyns,W.B., Gleeson,J.G., Shaw,D.W., McDonald,R., Eddy,A., Chance,P.F., and Glass,I.A. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. 2004; Am J Hum Genet. 75: 82-91.
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-
Parisi,M.A., Doherty,D., Eckert,M.L., Shaw,D.W., Ozyurek,H., Aysun,S., Giray,O., Al Swaid,A., Al Shahwan,S., Dohayan,N., Bakhsh,E., Indridason,O.S., Dobyns,W.B., Bennett,C.L., Chance,P.F., and Glass,I.A. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. 2006; J Med.Genet. 43: 334-339.
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-
Parry,D.A., Mighell,A.J., El-Sayed,W., Shore,R.C., Jalili,I.K., Dollfus,H., Bloch-Zupan,A., Carlos,R., Carr,I.M., Downey,L.M., Blain,K.M., Mansfield,D.C., Shahrabi,M., Heidari,M., Aref,P., Abbasi,M., Michaelides,M., Moore,A.T., Kirkham,J., and Inglehearn,C.F. Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. 2009; Am.J.Hum.Genet. 84: 266-273.
Goto Top
-
Pilz,D., Quarrell,O.W., and Jones,E.W. Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD). 1994; J.Med.Genet. 31: 328-330.
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-
Polok,B., Escher,P., Ambresin,A., Chouery,E., Bolay,S., Meunier,I., Nan,F., Hamel,C., Munier,F.L., Thilo,B., Megarbane,A., and Schorderet,D.F. Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. 2009; Am.J.Hum.Genet. 84: 259-265.
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-
Polymeropoulos,M.H., Swift,R.G., and Swift,M. Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. 1994; Nat.Genet. 8: 95-97.
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-
Portsteffen,H., Beyer,A., Becker,E., Epplen,C., Pawlak,A., Kunau,W.H., and Dodt,G. Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 1997; Nat.Genet. 17: 449-452.
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-
Reilly,D.S., Lewis,R.A., and Nussbaum,R.L. Genetic and physical mapping of Xq24-q26 markers flanking the Lowe oculocerebrorenal syndrome. 1990; Genomics. 8: 62-70.
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-
Remes,A.M., Peuhkurinen,K.J., Herva,R., Majamaa,K., and Hassinen,I.E. Kearns-Sayre syndrome case presenting a mitochondrial DNA deletion with unusual direct repeats and a rudimentary RNAase mitochondrial ribonucleotide processing target sequence. 1993; Genomics. 16: 256-258.
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-
Reuber,B.E., Germain-Lee,E., Collins,C.S., Morrell,J.C., Ameritunga,R., Moser,H.W., Valle,D., and Gould,S.J. Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 1997; Nat.Genet. 17: 445-448.
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-
Richards,A., Van den Maagdenberg,A.M., Jen,J.C., Kavanagh,D., Bertram,P., Spitzer,D., Liszewski,M.K., Barilla-LaBarca,M.L., Terwindt,G.M., Kasai,Y., McLellan,M., Grand,M.G., Vanmolkot,K.R., de,V.B., Wan,J., Kane,M.J., Mamsa,H., Schafer,R., Stam,A.H., Haan,J., de Jong,P.T., Storimans,C.W., van Schooneveld,M.J., Oosterhuis,J.A., Gschwendter,A., Dichgans,M., Kotschet,K.E., Hodgkinson,S., Hardy,T.A., Delatycki,M.B., Hajj-Ali,R.A., Kothari,P.H., Nelson,S.F., Frants,R.R., Baloh,R.W., Ferrari,M.D., and Atkinson,J.P. C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. 2007; Nat.Genet. 39: 1068-1070.
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-
Richards,A.J., Martin,S., Yates,J.R., Scott,J.D., Baguley,D.M., Pope,F.M., and Snead,M.P. COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes. 2000; Br.J.Ophthalmol. 84: 364-371.
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-
Richards,A.J., Yates,J.R., Williams,R., Payne,S.J., Pope,F.M., Scott,J.D., and Snead,M.P. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. 1996; Hum Mol.Genet. 5: 1339-1343.
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-
Ritvaniemi,P., Hyland,J., Ignatius,J., Kivirikko,K.I., Prockop,D.J., and Ala Kokko,L. A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis. 1993; Genomics. 17: 218-221.
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-
Saar,K., Al Gazali,L., Sztriha,L., Rueschendorf,F., Nur-E-Kamal, Reis,A., and Bayoumi,R. Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. 1999; Am J Hum Genet. 65: 1666-1671.
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-
Sayer,J.A., Otto,E.A., O'toole,J.F., Nurnberg,G., Kennedy,M.A., Becker,C., Hennies,H.C., Helou,J., Attanasio,M., Fausett,B.V., Utsch,B., Khanna,H., Liu,Y., Drummond,I., Kawakami,I., Kusakabe,T., Tsuda,M., Ma,L., Lee,H., Larson,R.G., Allen,S.J., Wilkinson,C.J., Nigg,E.A., Shou,C., Lillo,C., Williams,D.S., Hoppe,B., Kemper,M.J., Neuhaus,T., Parisi,M.A., Glass,I.A., Petry,M., Kispert,A., Gloy,J., Ganner,A., Walz,G., Zhu,X., Goldman,D., Nurnberg,P., Swaroop,A., Leroux,M.R., and Hildebrandt,F. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. 2006; Nat.Genet. 38: 674-681.
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-
Schnittger,S., Hofers,C., Heidemann,P., Beermann,F., and Hansmann,I. Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome). 1989; Hum.Genet. 83: 239-244.
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-
Schuermann,M.J., Otto,E., Becker,A., Saar,K., Ruschendorf,F., Polak,B.C., Ala-Mello,S., Hoefele,J., Wiedensohler,A., Haller,M., Omran,H., Nurnberg,P., and Hildebrandt,F. Mapping of gene loci for nephronophthisis type 4 and Senior-Loken syndrome, to chromosome 1p36. 2002; Am J Hum Genet. 70: 1240-1246.
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-
Sharp,C.W., Muir,W.J., Blackwood,D.H.R., Walker,M., Gosden,C., Stclair,D.M., Blackwood,D.H., and St Clair,D.M. Schizophrenia and mental retardation associated in a pedigree with retinitis pigmentosa and sensorineural deafness. 1994; Am.J.Med.Genet. 54: 354-360.
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-
Shastry,B.S. Signal transduction in the retina and inherited retinopathies. 1997; Cell Mol.Life Sci. 53: 419-429.
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-
Shimozawa,N., Imamura,A., Zhang,Z., Suzuki,Y., Orii,T., Tsukamoto,T., Osumi,T., Fujiki,Y., Wanders,R.J., Besley,G., and Kondo,N. Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. 1999; J.Med.Genet. 36: 779-781.
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-
Strom,T.M., Hortnagel,K., Hofmann,S., Gekeler,F., Scharfe,C., Rabl,W., Gerbitz,K.D., and Meitinger,T. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. 1998; Hum Mol.Genet. 7: 2021-2028.
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-
Sundin,O.H., Leppert,G.S., Silva,E.D., Yang,J.M., Dharmaraj,S., Maumenee,I.H., Santos,L.C., Parsa,C.F., Traboulsi,E.I., Broman,K.W., Dibernardo,C., Sunness,J.S., Toy,J., and Weinberg,E.M. Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. 2005; Proc.Natl.Acad.Sci.U.S.A. 102: 9553-9558.
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-
Tallila,J., Jakkula,E., Peltonen,L., Salonen,R., and Kestila,M. Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. 2008; Am.J.Hum.Genet. 82: 1361-1367.
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-
Tranebjaerg,L., Hamel,B.C., Gabreels,F.J., Renier,W.O., and Van Ghelue,M. A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome. 2000; Eur.J Hum Genet. 8: 464-467.
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-
Tranebjaerg,L., Schwartz,C., Eriksen,H., Andreasson,S., Ponjavic,V., Dahl,A., Stevenson,R.E., May,M., Arena,F., Barker,D., Elverland,H.H., and Lubs,H. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. 1995; J.Med.Genet. 32: 257-263.
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-
Valente,E.M., Marsh,S.E., Castori,M., Dixon-Salazar,T., Bertini,E., Al Gazali,L., Messer,J., Barbot,C., Woods,C.G., Boltshauser,E., Al Tawari,A.A., Salpietro,C.D., Kayserili,H., Sztriha,L., Gribaa,M., Koenig,M., Dallapiccola,B., and Gleeson,J.G. Distinguishing the four genetic causes of Jouberts syndrome-related disorders. 2005; Ann.Neurol. 57: 513-519.
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-
Valente,E.M., Salpietro,D.C., Brancati,F., Bertini,E., Galluccio,T., Tortorella,G., Briuglia,S., and Dallapiccola,B. Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. 2003; Am J Hum Genet. 73: 663-670.
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-
Valente,E.M., Silhavy,J.L., Brancati,F., Barrano,G., Krishnaswami,S.R., Castori,M., Lancaster,M.A., Boltshauser,E., Boccone,L., Al Gazali,L., Fazzi,E., Signorini,S., Louie,C.M., Bellacchio,E., Bertini,E., Dallapiccola,B., and Gleeson,J.G. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. 2006; Nat.Genet. 38: 623-625.
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Van Camp,G., Snoeckx,R.L., Hilgert,N., van den,E.J., Fukuoka,H., Wagatsuma,M., Suzuki,H., Smets,R.M., Vanhoenacker,F., Declau,F., Van de,H.P., and Usami,S. A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. 2006; Am.J.Hum.Genet. 79: 449-457.
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-
van den Brink,D.M., Brites,P., Haasjes,J., Wierzbicki,A.S., Mitchell,J., Lambert-Hamill,M., de Belleroche,J., Jansen,G.A., Waterham,H.R., and Wanders,R.J. Identification of PEX7 as the second gene involved in Refsum disease. 2003; Am.J.Hum.Genet. 72: 471-477.
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-
Yokota,T., Shiojiri,T., Gotoda,T., and Arai,H. Retinitis pigmentosa and ataxia caused by a mutation in the gene for the alpha-tocopherol-transfer protein. 1996; N.Engl.J Med. 335: 1770-1771.
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