Contact the Editor


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

This site includes links which are off influence of Retina International and do not neccessarily reflect the opinion of Retina International. Therefore, we refrain from any responsibility for these external links.

Disease Gene locus MIM Gene Gene MIM MoI Assignment

Linked Marker [cM] Remarks References
Hypomelanosis of Ito

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

Bloch-Sulzberger syndrome IP1 308300

xl Xp11.2

DXF34- DXS319
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
MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial


  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

Return to Retina International's Scientific Newsletter
Return to Group page
Return to pagehead