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DATABASES

Disease Database

Incontinentia pigmenti

Recent update from: 24.03.2010

This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Laboratory of Molecular Ophthalmology
Department of Opthalmology
Justus-Liebig-University, Giessen, Germany
Head: Prof. Dr. med. Birgit Lorenz

Disease Gene locus MIM Gene Gene MIM MoI Assignment

Linked Marker [cM] Remarks References
Hypomelanosis of Ito
146150

ar 9q33-ter, Xp11, 15q11-13



Link(2)
Link(3)
Link(4)
Bloch-Sulzberger syndrome IP1 308300

xl Xp11.2

DXF34- DXS319
Link(1)
Link(5)
Incontinentia pigmenti type 2 IP2 308310

xl Xq28

cen- DXS1296- IDS- DXS455- DXS304- DXS374- DXS52- DXS33- DXS134- DXS15- CV(RCP/GCP)- G6PD- F8C- DXS115- DXS108- DXYS154
Link(6)
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.
    Link Goto Top
  2. Happle,R. Tentative assignment of hypomelanosis of Ito to 9q33----qter. 1987; Hum.Genet. 75: 98-99.
    Link Goto Top
  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.
    Link Goto Top
  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.
    Link Goto Top
  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.
    Link Goto Top
  6. Smahi,A., Hyden-Granskog,C., Peterlin,B., Vabres,P., Heuertz,S., Fulchignoni-Lataud,M.C., Dahl,N., Labrune,P., Le,M.B., Piussan,C., and . The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28. 1994; Hum.Mol.Genet. 3: 273-278.
    Link Goto Top

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