EDM1: a novel point mutation in cartilage oligomeric matrix protein gene in a Chinese family with multiple epiphyseal dysplasia / 中华医学杂志(英文版)
Chinese Medical Journal
; (24): 1103-1107, 2013.
Article
em En
| WPRIM
| ID: wpr-342231
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>BACKGROUND</b>Multiple epiphysis dysplasia (MED) is a common skeletal dysplasia with a significant locus heterogeneity. In the majority of clinically defined cases, mutations have been identified in the gene encoding cartilage algometric matrix protein (COMP).</p><p><b>METHODS</b>Five patients were included in the study. Linkage analysis and mutation analysis of the COMP gene were conducted in the patients and their family members.</p><p><b>RESULTS</b>We have identified a novel mutation in axon 14 of COMP gene in the family.</p><p><b>CONCLUSIONS</b>This mutation produced a severe MED phenotype with marked short stature, early onset osteoarthritis, and remarkable radiographic changes. Our results extended the range of disease-causing mutations in COMP gene and contributed more information about relationship between mutations and phenotype.</p>
Texto completo:
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Base de dados:
WPRIM
Assunto principal:
Osteocondrodisplasias
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Linhagem
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Mutação Puntual
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Povo Asiático
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Proteína de Matriz Oligomérica de Cartilagem
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Genética
Limite:
Adolescent
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Female
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Humans
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Male
Idioma:
En
Revista:
Chinese Medical Journal
Ano de publicação:
2013
Tipo de documento:
Article