A Case of Stickler Syndrome Type I Caused by a Novel Variant of COL2A1 Gene
Journal of Genetic Medicine
; : 125-129, 2011.
Article
em Ko
| WPRIM
| ID: wpr-101741
Biblioteca responsável:
WPRO
ABSTRACT
Stickler syndrome is a very rare connective tissue disorder. The authors of the present study describe an 11-month-old girl with high myopia, retinal abnormalities, flat nose, cleft palate, retrognathia, micrognathia, short stature and arthrogryposis. Radiological evaluation also showed irregularity of the epiphysis of the femur and tibia and spondyloepiphyseal dysplasia. Genetic analysis using a peripheral blood sample revealed a novel variant c.787G>A (p.Gly246Asp) mutation of the COL2A1 gene. This is the first Korean case with Stickler syndrome confirmed by genetic testing.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Osteocondrodisplasias
/
Artrogripose
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Retinaldeído
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Retrognatismo
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Tíbia
/
Testes Genéticos
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Nariz
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Fissura Palatina
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Tecido Conjuntivo
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Mutação de Sentido Incorreto
Limite:
Humans
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Infant
Idioma:
Ko
Revista:
Journal of Genetic Medicine
Ano de publicação:
2011
Tipo de documento:
Article