Elalaoui Siham Chafai, Mariam Tajir, Ilham Ratbi, Yassamine Doubaj, Abdelaziz Sefiani
Department of Medical Genetics, National Institute of Health, Rabat, Morocco.
Indian J Hum Genet. 2011 May;17(2):97-9. doi: 10.4103/0971-6866.86197.
Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder. It is a spondyloepimetaphyseal dysplasia associated with mental retardation. Clinical manifestations include coarse facies, microcephaly, short trunk dwarfism, and mental retardation. Mutations in Dymeclin gene (DYM), mapped to chromosome 18q21.1, is responsible for DMC. We report here the observation of a consanguineous Moroccan patient having DMC syndrome. The molecular studies showed a previously reported homozygous mutation at c.1878delA of DYM gene. We discuss this recurrent mutation in Moroccan patients with DMC syndrome with a review.
戴格维-梅尔基奥尔-克劳森（DMC）综合征是一种罕见的常染色体隐性疾病。它是一种与智力发育迟缓相关的脊椎骨骺发育异常。临床表现包括面容粗糙、小头畸形、短躯干侏儒症和智力发育迟缓。定位于18号染色体q21.1的戴米克林基因（DYM）突变是导致DMC的原因。我们在此报告了一名患有DMC综合征的摩洛哥近亲结婚患者的观察情况。分子研究显示DYM基因c.1878delA处存在先前报道的纯合突变。我们结合文献综述讨论了摩洛哥DMC综合征患者中的这种复发性突变。
