Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family

Abstract Background Stickler syndrome is a group of connective tissue disorders that can affect eye (myopia, cataract, and retinal detachment), skeleton (spondyloepiphyseal dysplasia and precocious arthritis), craniofacies (midfacial under development and cleft palate), and inner ear (conductive and...

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Autores principales:	Hong Wu, Songtian Che, Shuchun Li, Yan Cheng, Jun Xiao, Zaoxia Liu
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	COL2A1 stickler syndrome type I collagenopathy Genetics QH426-470
Acceso en línea:	https://doaj.org/article/b916cd0e331d479baf8fadf85e9b393b
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spelling	oai:doaj.org-article:b916cd0e331d479baf8fadf85e9b393b2021-11-10T16:39:24ZCase report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family2324-926910.1002/mgg3.1781https://doaj.org/article/b916cd0e331d479baf8fadf85e9b393b2021-10-01T00:00:00Zhttps://doi.org/10.1002/mgg3.1781https://doaj.org/toc/2324-9269Abstract Background Stickler syndrome is a group of connective tissue disorders that can affect eye (myopia, cataract, and retinal detachment), skeleton (spondyloepiphyseal dysplasia and precocious arthritis), craniofacies (midfacial under development and cleft palate), and inner ear (conductive and sensorineural); with the degree of symptoms varying among patients. Mutations in the COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, and COL9A3 procollagen genes cause Stickler syndrome. Case presentation A 16‐year‐old Mongolian girl approached our clinics with retinal detachment. The proband had vitreous degeneration in both eyes, rhegmatogenous retinal detachment in her right eye, a large area of retina degeneration in her left eye, and coupled with severe myopia. No obvious hearing disorder was found, no abnormalities in bones and joints, and her communication and learning capability were also normal. Further clinical examination showed that the patient's other five family members across three generations had vitreous and retina degenerations. Exome sequencing showed a heterozygous splicing variant in COL2A1 in all patients. Conclusions In this case report, a pathogenic splicing variant in the COL2A1 gene was identified in a Mongolian family affected with Stickler syndrome type I by exome sequencing. This heterozygous splicing variant in COL2A1 (NM_001844.4:C.2518‐1G>A) that may impair splicing, which was suggested by in silico prediction. Next‐generation sequencing is helpful for the differential diagnosis of this clinically variable and genetically heterogeneous disorder.Hong WuSongtian CheShuchun LiYan ChengJun XiaoZaoxia LiuWileyarticleCOL2A1stickler syndrometype I collagenopathyGeneticsQH426-470ENMolecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	COL2A1 stickler syndrome type I collagenopathy Genetics QH426-470
spellingShingle	COL2A1 stickler syndrome type I collagenopathy Genetics QH426-470 Hong Wu Songtian Che Shuchun Li Yan Cheng Jun Xiao Zaoxia Liu Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family
description	Abstract Background Stickler syndrome is a group of connective tissue disorders that can affect eye (myopia, cataract, and retinal detachment), skeleton (spondyloepiphyseal dysplasia and precocious arthritis), craniofacies (midfacial under development and cleft palate), and inner ear (conductive and sensorineural); with the degree of symptoms varying among patients. Mutations in the COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, and COL9A3 procollagen genes cause Stickler syndrome. Case presentation A 16‐year‐old Mongolian girl approached our clinics with retinal detachment. The proband had vitreous degeneration in both eyes, rhegmatogenous retinal detachment in her right eye, a large area of retina degeneration in her left eye, and coupled with severe myopia. No obvious hearing disorder was found, no abnormalities in bones and joints, and her communication and learning capability were also normal. Further clinical examination showed that the patient's other five family members across three generations had vitreous and retina degenerations. Exome sequencing showed a heterozygous splicing variant in COL2A1 in all patients. Conclusions In this case report, a pathogenic splicing variant in the COL2A1 gene was identified in a Mongolian family affected with Stickler syndrome type I by exome sequencing. This heterozygous splicing variant in COL2A1 (NM_001844.4:C.2518‐1G>A) that may impair splicing, which was suggested by in silico prediction. Next‐generation sequencing is helpful for the differential diagnosis of this clinically variable and genetically heterogeneous disorder.
format	article
author	Hong Wu Songtian Che Shuchun Li Yan Cheng Jun Xiao Zaoxia Liu
author_facet	Hong Wu Songtian Che Shuchun Li Yan Cheng Jun Xiao Zaoxia Liu
author_sort	Hong Wu
title	Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family
title_short	Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family
title_full	Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family
title_fullStr	Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family
title_full_unstemmed	Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family
title_sort	case report of the first molecular diagnosis of stickler syndrome with a pathogenic col2a1 variant in a mongolia family
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/b916cd0e331d479baf8fadf85e9b393b
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Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family

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