A Case of Stickler Syndrome Type I Caused by a Novel Variant of COL2A1 Gene
Journal of Genetic Medicine
;
: 125-129, 2011.
Article
Dans Coréen
| WPRIM
| ID: wpr-101741
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Ostéochondrodysplasies
/
Arthrogrypose
/
Rétinal
/
Rétrognathie
/
Tibia
/
Dépistage génétique
/
Nez
/
Fente palatine
/
Tissu conjonctif
/
Mutation faux-sens
Limites du sujet:
Humains
/
Bébé
langue:
Coréen
Texte intégral:
Journal of Genetic Medicine
Année:
2011
Type:
Article
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