ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome
✍ Scribed by Nathalie Dagoneau; Catherine Benoist-Lasselin; Céline Huber; Laurence Faivre; André Mégarbané; Abdulrahman Alswaid; Hélène Dollfus; Yves Alembik; Arnold Munnich; Laurence Legeai-Mallet; Valérie Cormier-Daire
- Book ID
- 117854533
- Publisher
- American Society of Human Genetics
- Year
- 2004
- Tongue
- English
- Weight
- 784 KB
- Volume
- 75
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/425231
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We report the identification and functional analysis of the first missense ADAMTS10 mutation (c.73G4A; p.Ala25Thr) causing recessive Weill-Marchesani syndrome (WMS). The Ala25 residue affected by the missense mutation is at the À1 position relative to the ADAMTS10 signal peptidase cleavage site. p.A
Weill-Marchesani syndrome comprises short stature, brachydactyly, microspherophakia, glaucoma, and ectopia lentis is regarded as an autosomal recessive trait (McKusick 277600). We present two families each with affected individuals in 3 generations demonstrating autosomal dominant inheritance of Wei