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- Title
Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1.
- Authors
Choi, Soon-Il; Woo, Se-Joon; Oh, Baek-Lok; Han, Jinu; Lim, Hyun-Taek; Lee, Byung-Joo; Joo, Kwangsic; Park, Jun-Young; Jang, Ja-Hyun; So, Min-Kyung; Kim, Sang-Jin
- Abstract
Stickler syndrome is an inherited connective tissue disorder of collagen. There are relatively few reports of East Asian patients, and no large-scale studies have been conducted in Korean patients yet. In this study, we retrospectively analyzed the genetic characteristics and clinical features of Korean Stickler syndrome patients. Among 37 genetically confirmed Stickler syndrome patients, 21 types of gene variants were identified, of which 12 were novel variants. A total of 30 people had variants in the COL2A1 gene and 7 had variants in the COL11A1 gene. Among the types of pathogenic variants, missense variants were found in 11, nonsense variants in 8, and splice site variants in 7. Splicing variants were frequently associated with retinal detachment (71%) followed by missense variants. This is the first large-scale study of Koreans with Stickler syndrome, which will expand the spectrum of genetic variations of Stickler syndrome.
- Subjects
KOREANS; EAST Asians; GENETIC variation; RETINAL detachment; SYNDROMES
- Publication
Genes, 2021, Vol 12, Issue 10, p1578
- ISSN
2073-4425
- Publication type
Article
- DOI
10.3390/genes12101578