title: A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review.
abstract: 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.
authors.affiliation: Department of Medical Genetics, National Institute of Health, Rabat, Morocco.
authors.forename: Siham Chafai
authors.initials: SC
authors.lastname: Elalaoui
authors.forename: Tajir
authors.initials: T
authors.lastname: Mariam
authors.forename: Ratbi
authors.initials: R
authors.lastname: Ilham
authors.forename: Doubaj
authors.initials: D
authors.lastname: Yassamine
authors.forename: Sefiani
authors.initials: S
authors.lastname: Abdelaziz
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