Trichothiodystrophy, nonphotosensitive 1
OMIM:234050Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the skin and subcutaneous tissue
Mutations
| Gene Symbol | C7orf11 |
|---|---|
| Reference transcript | NM_138701.3 |
| DNA Change | c.137_138delGG |
| A.A. Change | p.Gly46GlufsX13 |
| Exon/Intron | exon 1 |
| Mutation Type | deletion |
| Reference | Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, Seboun E, Jaspers NG, Beckmann JS, Jackson CE, Scherer SW.Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. Am J Hum Genet. 2005 Mar;76(3):510-6. |