Novel compound heterozygous mutations in KREMEN1 confirm it as a disease gene for ectodermal dysplasia

Abstract

Ectodermal dysplasia (ED) is a heterogeneous group of disorders caused by mutations in at least thirteen genes. Recently, a study reported Palestinian patients with ED from consanguineous families with a homozygous mutation in KREMEN1 (Kringle-containing transmembrane protein 1) and proposed it to be a causative gene for the autosomal recessive ED 13, hair/tooth type (ECTD13; OMIM #617392). A Thai family, parents and two children affected with ED, was recruited. The study was exempted from review by the Institutional Review Board, Faculty of Medicine, Chulalongkorn University (IRB584/60). Written informed consents of each participant were obtained according to the Declaration of Helsinki. Mutation analyses were performed as described previously.

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