| CASE REPORT |
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| Year : 2011 | Volume
: 17
| Issue : 2 | Page : 97-99 |
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A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review
Siham Chafai Elalaoui1, Tajir Mariam1, Ratbi Ilham2, Doubaj Yassamine1, Sefiani Abdelaziz2
1 Department of Medical Genetics, National Institute of Health, Rabat, Morocco
2 Department of Medical Genetics, National Institute of Health, Rabat;Laboratory of Human Genomics, Mohammed V University, Souissi, Rabat, Morocco
Correspondence Address:
Siham Chafai Elalaoui
Department of Medical Genetics, National Institute of Health, 27, Avenue Ibn Batouta, B.P. 769, 11400, Rabat
Morocco
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/0971-6866.86197
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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. |
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