Scientific Newsletter Logo Retina International's

Scientific Newsletter


Mutation Database
Mutations of the McKusick-Kaufman Gene (MKKS)

Recent update from: 12.03.2003


Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
Sequence

0 0
The mutation data for this gene are currently not adjusted to a standardised sequence and given as reported by the authors cited.



BBS6 Ile 32 Met ATT-ATG
3
Compound:
  • S235P
goto HGMD
(1)
BBS6 Thr 57 Ala ACC-GCC
3
Compound:
  • single
  • RP
  • Obesity
  • Learning disabilities
goto HGMD 604896-0010 (2)
BBS6 Gln 147 ter CAG-TAG
3
Compound:
  • single
Triallelic Inheritance:
  • Y24X/Q59X (BBS2)
goto HGMD 604896-0012 (1)
(3)
BBS6 Ser 235 Pro TCA-CCA
3
Compound:
  • I32M
goto HGMD
(1)
BBS6 Leu 277 Pro CTT-CGT
3
Compound:
  • 280delT
  • RP
  • Obesity
  • Learning disabilities
  • Renal abnormality
goto HGMD 604896-0008 (2)
BBS6 Asp 285 Ala GAC-GCC
3

goto HGMD
(1)
BBS6 Cys 499 Ser TGT-TCT
6
Compound:
  • single
Triallelic Inheritance:
  • L168fsX170/R216X (BBS2)
goto HGMD
(3)
BBS6 Ser 511 Ala TCT-GCT
6

goto HGMD 604896-0013 (1)
BBS6 Arg 518 His CGT-CAT
6

goto HGMD
(1)
BBS6 280delT TATCAC-TA_CAC 0280 3
Homozygous
Heterozygous
  • RP
  • Obesity
  • Learning disabilities
  • Renal abnormality
goto HGMD 604896-0007 (2)
BBS6 Gly 52 Asp GGT-GAT 1042 3
  • RP
  • polydactyly
  • obesity
  • learning disability
Compound:
  • Y264X
goto HGMD 604896-0005 (4)
BBS6 1167delT T-_ 1167 3
  • RP obesity
  • learning disability
  • diabetes melitus
  • renal anomalies

Homozygous


(4)
BBS6 1316delC C-_ 1316 3
  • RP
  • polydactyly
  • obesity
  • learning disability
  • diabetes melitus
  • renal anomalies

Homozygous together with 1324delGTA


(4)
BBS6 1324delGTA GTA-___ 1324 3
  • RP
  • polydactyly
  • obesity
  • learning disability
  • diabetes melitus
  • renal anomalies

Homozygous together with 1316delC

604896-0011 (4)
BBS6 Tyr 264 ter TAT-TAA 1679 3
  • RP
  • polydactyly
  • obesity
  • learning disability
Compound:
  • G52D
goto HGMD 604896-0006 (4)
BBS6 429delCT433delAG ACTTTAGTAGT- A__TT__TAGT 429

Compound:
  • 280delT
  • RP
  • Obesity
  • Learning disabilities
  • Renal abnormality
goto HGMD 604896-0009 (2)
BBS6, MKKS Tyr 37 Cys TAT-TGT
3
  • RP
  • Obesity
  • Learning disabilities
  • Renal abnormality
  • within thermosome domain
Compound:
  • Homozygous
  • 2111delGG
Triallelic Inheritance:
  • single N70S (BBS2)
goto HGMD 604896-0003 (2)
(3)
MKKS Ala 242 Ser GCA-TCA
3
Compound:
  • single
  • homozygous
  • in cis H84Y
Triallelic Inheritance:
  • homozygous Y24X (BBS2)
goto HGMD 604896-0002 (1)
MKKS His 84 Tyr CAT-TAT 1137 3
Compound:
  • homozygous
    in cis A242S
Lies within flip-flop domain
goto HGMD 604896-0001 (5)
MKKS 2111delGG TTG GGA-TTG __A 2111 5
Compound:
  • Y37C
goto HGMD 604896-0004 (5)

References

  1. Beales,P.L., Katsanis,N., Lewis,R.A., Ansley,S.J., Elcioglu,N., Raza,J., Woods,M.O., Green,J.S., Parfrey,P.S., Davidson,W.S., and Lupski,J.R. Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. 2001; Am.J.Hum.Genet. 68: 606-616.
    Link to PubMed
    Goto Top

  2. Katsanis,N., Beales,P.L., Woods,M.O., Lewis,R.A., Green,J.S., Parfrey,P.S., Ansley,S.J., Davidson,W.S., and Lupski,J.R. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. 2000; Nat.Genet. 26: 67-70.
    Link to PubMed
    Goto Top

  3. Katsanis,N., Shroyer,N.F., Lewis,R.A., Cavender,J.C., Al Rajhi,A.A., Jabak,M., and Lupski,J.R. Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. 2001; Clin.Genet. 59: 424-429.
    Link to PubMed
    Goto Top

  4. Slavotinek,A.M., Stone,E.M., Mykytyn,K., Heckenlively,J.R., Green,J.S., Heon,E., Musarella,M.A., Parfrey,P.S., Sheffield,V.C., and Biesecker,L.G. Mutations in MKKS cause Bardet-Biedl syndrome. 2000; Nat.Genet. 26: 15-16.
    Link to PubMed
    Goto Top

  5. Stone,E.M., Haider,N.B., Jacobson,S.G., Cideciyan,A.V., Swiderski,R.E., Bennett,J., Weleber,R.G., Fishman,G.A., and Sheffield,V.C. Mutations in a photoreceptor-specific nuclear receptor (NR2E3) cause the enhanced S-cone syndrome. 2000; Invest.Ophthalm.Vis.Sci. 41: S94
    Goto Top


Return to Retina International's
Scientmfic Newsletter
Return to
Mutation Database Page
Return to pagehead

Contact the editor
Return to
Database Page
This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz