J Genet Med.  2011 Dec;8(2):125-129.

A Case of Stickler Syndrome Type I Caused by a Novel Variant of COL2A1 Gene

Affiliations
  • 1Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea. hwyoo@amc.seoul.kr
  • 2Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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.

Keyword

Stickler syndrome; COL2A1; Missense mutation
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