Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
Vol. 17, No. 2, 2011, pp. 97-99
Bioline Code: hg11023
Full paper language: English
Document type: Case Report
Document available free of charge
Indian Journal of Human Genetics, Vol. 17, No. 2, 2011, pp. 97-99
© Copyright 2011 Indian Journal of Human Genetics.
A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review|
Elalaoui, Siham Chafai.; Mariam, Tajir; Ilham, Ratbi; Yassamine, Doubaj & Abdelaziz, Sefiani
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.
Dyggve-Melchior-Clausen syndrome, Dymeclin gene, recurrent mutation
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