Genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma
OMIM:Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | SASH1 |
|---|---|
| Reference transcript | NM_015278.3 |
| DNA Change | c.1849G>A |
| A.A. Change | p.Glu617Lys |
| Exon/Intron | exon 15 |
| Mutation Type | substitution |
| Reference | Courcet JB, Elalaoui SC, Duplomb L, Tajir M, Rivière JB, Thevenon J, Gigot N, Marle N, Aral B, Duffourd Y, Sarasin A, Naim V, Courcet-Degrolard E, Aubriot-Lorton MH, Martin L, Abrid JE, Thauvin C, Sefiani A, Vabres P, Faivre L.Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma. Eur J Hum Genet. 2015 Jul;23(7):957-62. |