A Case of Type 1 Stickler Syndrome Caused by a Novel Mutation in COL2A1.
10.3904/kjm.2014.87.6.738
- Author:
Dong Kyu PARK
1
;
Shin Hye KIM
;
Beom Hee LEE
;
Gu Hwan KIM
;
Han Wook YOO
;
Mi Jung PARK
Author Information
1. Department of Pediatrics, Sanggye Paik Hospital, Inje University, College of Medicine, Seoul, Korea. pmj@paik.ac.kr
- Publication Type:Case Report
- Keywords:
Stickler syndrome;
COL2A1
- MeSH:
Child;
Diagnosis;
Humans;
Intellectual Disability;
Joints;
Male;
Myopia;
Retinal Detachment
- From:Korean Journal of Medicine
2014;87(6):738-742
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Stickler syndrome is a genetic disorder characterized by ophthalmologic, craniofacial, audiologic, and joint problems. In this report, we describe a 10-year-old boy presenting with a flat face, high myopia, retinal detachment, arthropathy, short stature, and mental retardation. Sequencing of the COL2A1 gene revealed a novel mutation, c.3055C > T (p.Pro1019Ser), consistent with a diagnosis of Type 1 Stickler Syndrome.
