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Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea.
Ann Lab Med. 2016 Mar; 36(2):166-9.AL

Abstract

Stickler syndrome is a genetically heterogeneous disorder that affects the ocular, auditory, and musculoskeletal systems. Ocular-only variant of Stickler syndrome type 1 (OSTL1) is characterized by high risk of retinal detachment without systemic involvement and is caused by alternatively spliced exon 2 mutation of COL2A1. We report the cases of two Korean families with OSTL1 carrying likely pathogenic variants of COL2A1. All patients presented with membranous vitreous anomaly, peripheral retinal degeneration, and/or rhegmatogenous retinal detachment, but no systemic manifestations. By genetic analysis, two likely pathogenic non-exon 2 variants, c.2678dupC (p.Ala895Serfs*49) and c.3327+ 1G>C, were identified in COL2A1. Our results demonstrate that COL2A1 defects in OSTL1 are not confined to mutations in exon 2. Together with molecular data, ophthalmologists should consider genetic diagnosis of Stickler syndrome in patients with vitreous anomaly to prevent blindness from retinal detachment. To our knowledge, this is the first report of genetically confirmed OSTL1 in Korea.

Authors+Show Affiliations

Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.Department of Laboratory Medicine, Korea University College of Medicine, Seoul, Korea.Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. sangjinkim@skku.edu.

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

26709265

Citation

Yoon, Je Moon, et al. "Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: the First Molecular Diagnosis in Korea." Annals of Laboratory Medicine, vol. 36, no. 2, 2016, pp. 166-9.
Yoon JM, Jang MA, Ki CS, et al. Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea. Ann Lab Med. 2016;36(2):166-9.
Yoon, J. M., Jang, M. A., Ki, C. S., & Kim, S. J. (2016). Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea. Annals of Laboratory Medicine, 36(2), 166-9. https://doi.org/10.3343/alm.2016.36.2.166
Yoon JM, et al. Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: the First Molecular Diagnosis in Korea. Ann Lab Med. 2016;36(2):166-9. PubMed PMID: 26709265.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea. AU - Yoon,Je Moon, AU - Jang,Mi-Ae, AU - Ki,Chang-Seok, AU - Kim,Sang Jin, PY - 2015/07/06/received PY - 2015/07/25/revised PY - 2015/11/10/accepted PY - 2015/12/29/entrez PY - 2015/12/29/pubmed PY - 2017/1/10/medline KW - COL2A1 KW - Mutation KW - Ocular-only variant KW - Retinal detachment KW - Stickler syndrome SP - 166 EP - 9 JF - Annals of laboratory medicine JO - Ann Lab Med VL - 36 IS - 2 N2 - Stickler syndrome is a genetically heterogeneous disorder that affects the ocular, auditory, and musculoskeletal systems. Ocular-only variant of Stickler syndrome type 1 (OSTL1) is characterized by high risk of retinal detachment without systemic involvement and is caused by alternatively spliced exon 2 mutation of COL2A1. We report the cases of two Korean families with OSTL1 carrying likely pathogenic variants of COL2A1. All patients presented with membranous vitreous anomaly, peripheral retinal degeneration, and/or rhegmatogenous retinal detachment, but no systemic manifestations. By genetic analysis, two likely pathogenic non-exon 2 variants, c.2678dupC (p.Ala895Serfs*49) and c.3327+ 1G>C, were identified in COL2A1. Our results demonstrate that COL2A1 defects in OSTL1 are not confined to mutations in exon 2. Together with molecular data, ophthalmologists should consider genetic diagnosis of Stickler syndrome in patients with vitreous anomaly to prevent blindness from retinal detachment. To our knowledge, this is the first report of genetically confirmed OSTL1 in Korea. SN - 2234-3814 UR - https://www.unboundmedicine.com/medline/citation/26709265/Two_Likely_Pathogenic_Variants_of_COL2A1_in_Unrelated_Korean_Patients_With_Ocular_Only_Variants_of_Stickler_Syndrome:_The_First_Molecular_Diagnosis_in_Korea_ L2 - http://www.annlabmed.org/journal/viewJournal.html?year=2016&vol=36&page=166 DB - PRIME DP - Unbound Medicine ER -