Gene: [09q34/ITO] hypomelanosis of Ito (incontinentia pigmenti achromians, IPA); [HMI IPA ]
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COM |
The identification of the loci is based on two previously reported cases of the interchange between chromosomes 9 and X (summarized in Happle-1987). Furthermore, Turleau-1986, on the basis of a case of mosaicism for 15q1 microdeletion in combination with Ito hypomelanosis, suggested the location of the corresponding gene in this region. Therefore MIM-90 indicates both locations as equally possible, and considers the marker itself as a secondary one. The HGM catalogues do not include this marker yet." |
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HET |
Two X-linked forms of incontinentia pigmenti are known, GEM:0Xp11/IP1 and GEM:0Xq2/IP2." |
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REF |
PHE "Cochat &: Pediatrie, 41, N7, 565-570, 1986 PHE "Donnai, Read: Lancet, 339, N8796, 819-820, 1992 LOC,CYG "Gilgenkrantz S &: Ann Genet, 28, N2, 90-92, 1985 PHE "Grosshans &: Dermatologica, 142, 65-78, 1971 LOC,CYG "Happle R: Hum Genet, 75, 98-99, 1987 LOC,CYG "Hodgson SV &: Hum Genet, 71, 231-234, 1985 PHE "Jelinek &: Arch Derm, 107, 596-601, 1973 PHE "Rosemberg &: Neuropediat, 15, 52-55, 1984 |
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KEY |
derm, neu |
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CLA |
unknown, basic |
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LOC |
09 q34 |
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MIM |
MIM: 146150 |
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SYN |
HMI IPA |
