A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia
Objective: Skeletal dysplasias, caused by genetic mutations, are a heterogenous group of heritable disorders affecting bone development during fetal life. Stickler syndrome, one of the skeletal dysplasias, is an autosomal dominant connective tissue disorder caused by abnormal collagen synthesis owin...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2021-03-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455921000176 |
| _version_ | 1818620526092877824 |
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| author | Fu-Chieh Chu Ling-Yien Hii Tai-Ho Hung Liang-Ming Lo T'sang-T'ang Hsieh Steven W. Shaw |
| author_facet | Fu-Chieh Chu Ling-Yien Hii Tai-Ho Hung Liang-Ming Lo T'sang-T'ang Hsieh Steven W. Shaw |
| author_sort | Fu-Chieh Chu |
| collection | DOAJ |
| description | Objective: Skeletal dysplasias, caused by genetic mutations, are a heterogenous group of heritable disorders affecting bone development during fetal life. Stickler syndrome, one of the skeletal dysplasias, is an autosomal dominant connective tissue disorder caused by abnormal collagen synthesis owing to a genetic mutation in COL2A1. Case report: We present the case of a 38-year-old multipara woman whose first trimester screening showed a normal karyotype. However, the bilateral femur and humerus length symmetrically shortened after 20 weeks. Next-generation sequencing for mutations in potential genes leading to skeletal dysplasia detected a novel de novo mutation (c.1438G > A, p.Gly480Arg) in COL2A1, causing Stickler syndrome type 1. This pathogenic mutation might impair or destabilize the collagen structure, leading to collagen type II, IX, and XI dysfunction. Conclusion: We identified a novel de novo mutation in COL2A1 related to the STL1 syndrome and delineated the extent of the skeletal dysplasia disease spectrum. |
| first_indexed | 2024-12-16T17:54:47Z |
| format | Article |
| id | doaj.art-28a0a762a12f411199af8f3f4c9870dc |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-12-16T17:54:47Z |
| publishDate | 2021-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-28a0a762a12f411199af8f3f4c9870dc2022-12-21T22:22:11ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592021-03-01602359362A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasiaFu-Chieh Chu0Ling-Yien Hii1Tai-Ho Hung2Liang-Ming Lo3T'sang-T'ang Hsieh4Steven W. Shaw5Department of Obstetrics and Gynecology, Taipei Chang Gung Memorial Hospital, Taipei, Taiwan; School of Medicine, Chang Gung University, Taoyuan, TaiwanDepartment of Obstetrics and Gynecology, Sabah Women's and Children's Hospital, Sabah, MalaysiaDepartment of Obstetrics and Gynecology, Taipei Chang Gung Memorial Hospital, Taipei, Taiwan; School of Medicine, Chang Gung University, Taoyuan, TaiwanDepartment of Obstetrics and Gynecology, Taipei Chang Gung Memorial Hospital, Taipei, Taiwan; School of Medicine, Chang Gung University, Taoyuan, TaiwanDepartment of Obstetrics and Gynecology, Taipei Chang Gung Memorial Hospital, Taipei, Taiwan; School of Medicine, Chang Gung University, Taoyuan, TaiwanDepartment of Obstetrics and Gynecology, Taipei Chang Gung Memorial Hospital, Taipei, Taiwan; School of Medicine, Chang Gung University, Taoyuan, Taiwan; Corresponding author. Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Taipei, 199 Dun-Hua North Road, 105, Taipei, Taiwan.Objective: Skeletal dysplasias, caused by genetic mutations, are a heterogenous group of heritable disorders affecting bone development during fetal life. Stickler syndrome, one of the skeletal dysplasias, is an autosomal dominant connective tissue disorder caused by abnormal collagen synthesis owing to a genetic mutation in COL2A1. Case report: We present the case of a 38-year-old multipara woman whose first trimester screening showed a normal karyotype. However, the bilateral femur and humerus length symmetrically shortened after 20 weeks. Next-generation sequencing for mutations in potential genes leading to skeletal dysplasia detected a novel de novo mutation (c.1438G > A, p.Gly480Arg) in COL2A1, causing Stickler syndrome type 1. This pathogenic mutation might impair or destabilize the collagen structure, leading to collagen type II, IX, and XI dysfunction. Conclusion: We identified a novel de novo mutation in COL2A1 related to the STL1 syndrome and delineated the extent of the skeletal dysplasia disease spectrum.http://www.sciencedirect.com/science/article/pii/S1028455921000176COL2A1 geneSkeletal dysplasiaShort extremities |
| spellingShingle | Fu-Chieh Chu Ling-Yien Hii Tai-Ho Hung Liang-Ming Lo T'sang-T'ang Hsieh Steven W. Shaw A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia Taiwanese Journal of Obstetrics & Gynecology COL2A1 gene Skeletal dysplasia Short extremities |
| title | A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia |
| title_full | A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia |
| title_fullStr | A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia |
| title_full_unstemmed | A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia |
| title_short | A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia |
| title_sort | novel de novo mutation in col2a1 gene associated with fetal skeletal dysplasia |
| topic | COL2A1 gene Skeletal dysplasia Short extremities |
| url | http://www.sciencedirect.com/science/article/pii/S1028455921000176 |
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