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Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment.
Genes (Basel). 2020 08 03; 11(8)G

Abstract

Stickler syndrome is a connective tissue disorder that affects multiple systems, including the visual system. Seven genes were reported to cause Stickler syndrome in patients with different phenotypes. In this study, we aimed to evaluate the mutation features of the phenotypes of high myopia and retinal detachment. Forty-two probands diagnosed with Stickler syndrome were included. Comprehensive ocular examinations were performed. A targeted gene panel test or whole exome sequencing was used to detect the mutations, and Sanger sequencing was conducted for verification and segregation analysis. Among the 42 probands, 32 (76%) presented with high myopia and 29 (69%), with retinal detachment. Pathogenic mutations were detected in 35 (83%) probands: 27 (64%) probands had COL2A1 mutations, and eight (19%) probands had COL11A1 mutations. Truncational mutations in COL2A1 were present in 21 (78%) probands. Missense mutations in COL2A1 were present in six probands, five of which presented with retinal detachment. De novo COL2A1 mutations were detected in 10 (37%) probands, with a mean paternal childbearing age of 29.64 ± 4.97 years old. The mutation features of probands with high myopia or retinal detachment showed that the probands had a high prevalence of COL2A1 mutations, truncational mutations, and de novo mutations.

Authors+Show Affiliations

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, 54 Xianlie Road, Guangzhou 510060, China.State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, 54 Xianlie Road, Guangzhou 510060, China.State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, 54 Xianlie Road, Guangzhou 510060, China.State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, 54 Xianlie Road, Guangzhou 510060, China.State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, 54 Xianlie Road, Guangzhou 510060, China.State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, 54 Xianlie Road, Guangzhou 510060, China.State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, 54 Xianlie Road, Guangzhou 510060, China.State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, 54 Xianlie Road, Guangzhou 510060, China.

Pub Type(s)

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

Language

eng

PubMed ID

32756486

Citation

Huang, Li, et al. "Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients With High Myopia or Retinal Detachment." Genes, vol. 11, no. 8, 2020.
Huang L, Chen C, Wang Z, et al. Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment. Genes (Basel). 2020;11(8).
Huang, L., Chen, C., Wang, Z., Sun, L., Li, S., Zhang, T., Luo, X., & Ding, X. (2020). Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment. Genes, 11(8). https://doi.org/10.3390/genes11080882
Huang L, et al. Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients With High Myopia or Retinal Detachment. Genes (Basel). 2020 08 3;11(8) PubMed PMID: 32756486.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment. AU - Huang,Li, AU - Chen,Chonglin, AU - Wang,Zhirong, AU - Sun,Limei, AU - Li,Songshan, AU - Zhang,Ting, AU - Luo,Xiaoling, AU - Ding,Xiaoyan, Y1 - 2020/08/03/ PY - 2020/06/06/received PY - 2020/07/16/revised PY - 2020/07/30/accepted PY - 2020/8/7/entrez PY - 2020/8/7/pubmed PY - 2020/8/7/medline KW - COL11A1 KW - COL2A1 KW - Stickler syndrome KW - de novo mutations KW - high myopia KW - retinal detachment JF - Genes JO - Genes (Basel) VL - 11 IS - 8 N2 - Stickler syndrome is a connective tissue disorder that affects multiple systems, including the visual system. Seven genes were reported to cause Stickler syndrome in patients with different phenotypes. In this study, we aimed to evaluate the mutation features of the phenotypes of high myopia and retinal detachment. Forty-two probands diagnosed with Stickler syndrome were included. Comprehensive ocular examinations were performed. A targeted gene panel test or whole exome sequencing was used to detect the mutations, and Sanger sequencing was conducted for verification and segregation analysis. Among the 42 probands, 32 (76%) presented with high myopia and 29 (69%), with retinal detachment. Pathogenic mutations were detected in 35 (83%) probands: 27 (64%) probands had COL2A1 mutations, and eight (19%) probands had COL11A1 mutations. Truncational mutations in COL2A1 were present in 21 (78%) probands. Missense mutations in COL2A1 were present in six probands, five of which presented with retinal detachment. De novo COL2A1 mutations were detected in 10 (37%) probands, with a mean paternal childbearing age of 29.64 ± 4.97 years old. The mutation features of probands with high myopia or retinal detachment showed that the probands had a high prevalence of COL2A1 mutations, truncational mutations, and de novo mutations. SN - 2073-4425 UR - https://www.unboundmedicine.com/medline/citation/32756486/Mutation_Spectrum_and_De_Novo_Mutation_Analysis_in_Stickler_Syndrome_Patients_with_High_Myopia_or_Retinal_Detachment_ L2 - https://www.mdpi.com/resolver?pii=genes11080882 DB - PRIME DP - Unbound Medicine ER -
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