Kniest dysplasia due to mutation of COL2A1 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 323-326, 2015.
Artigo
em Chinês
| WPRIM
| ID: wpr-239479
ABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutation of COL2A1 gene in two children suspected for Kniest dysplasia.</p><p><b>METHODS</b>The 54 exons and splicing regions of the COL2A1 gene were amplified with PCR and the product was subjected to direct sequencing.</p><p><b>RESULTS</b>A missense mutation (c.905C>T, p.Ala302Val) was found in the coding region of the COL2A1 gene, which has been previously reported in abroad. The patients appeared to have short trunk dwarfism, enlarged joints and midface hypoplasia.</p><p><b>CONCLUSION</b>The probands are the first cases of Kniest dysplasia described in China, and so was the p.Ala302Val mutation.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Osteocondrodisplasias
/
Anormalidades Congênitas
/
Dados de Sequência Molecular
/
Sequência de Bases
/
China
/
Splicing de RNA
/
Éxons
/
Fases de Leitura Aberta
/
Fissura Palatina
/
Doenças do Colágeno
Limite:
Criança, pré-escolar
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2015
Tipo de documento:
Artigo
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