A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review.
Indian J Hum Genet
;
2011 May; 17(2): 97-99
Artigo
em Inglês
| IMSEAR
| ID: sea-138944
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.
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Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Osteocondrodisplasias
/
Pais
/
Humanos
/
Masculino
/
Criança
/
Consanguinidade
/
Doenças Genéticas Ligadas ao Cromossomo X
/
Nanismo
/
Deficiência Intelectual
/
Marrocos
País/Região como assunto:
África
Idioma:
Inglês
Revista:
Indian J Hum Genet
Ano de publicação:
2011
Tipo de documento:
Artigo
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