Disease Database Incontinentia Pigmenti

Recent update from: 10.03.04

MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial

References

1. Gorski,J.L., Bialecki,M.D., McDonald,M.T., Massa,H.F., Trask,B.J., and Burright,E.N. Cosmids map two incontinentia pigmenti type 1 (IP1) translocation breakpoints to a 180-kb region within a 1.2-Mb YAC contig. 1996; Genomics. 35: 338-345.
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2. Happle,R. Tentative assignment of hypomelanosis of Ito to 9q33----qter. 1987; Hum.Genet. 75: 98-99.
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3. Koiffmann,C.P., de Souza,D.H., Diament,A., Ventura,H.B., Alves,R.S., Kihara,S., and Wajntal,A. Incontinentia pigmenti achromians (hypomelanosis of ITO, MIM 146150): further evidence of localization at Xp11. 1993; Am.J.Med.Genet. 46: 529-533.
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4. Pellegrino,J.E., Schnur,R.E., Kline,R., Zackai,E.H., and Spinner,N.B. Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene? 1995; Hum.Genet. 96: 485-489.
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5. Reed,V., Rider,S., Maslen,G.L., Hatchwell,E., Blair,H.J., Uwechue,I.C., Craig,I.W., Laval,S.H., Monaco,A.P., and Boyd,Y. A 2-Mb YAC contig encompassing three loci (DXF34, DXS14, and DXS390) that lie between Xp11.2 translocation breakpoints associated with incontinentia pigmenti type 1. 1994; Genomics. 20: 341-346.
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6. Smahi,A., Hyden-Granskrog,C., Peterlin,B., Vabres,P., Heuertz,S., Fulchignoni-Lataud,M.C., Dahl,N., Labrune,P., Le Marec,B., Puissan,C., Taieb,A., von Koskull,H., Hors-Cayla,M.C., Hyden Granskog,C., Fulchignoni Lataud,M.C., and Piussan,C. The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28. 1994; Hum.Mol.Genet. 3: 273-278.
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Contact the editor	Return to Disease 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