<i>COL9A3</i>基因新變異致Stickler綜合征一家系2例_Chinese Journal of Ocular Fundus Diseases

Authors：

高杰 ¹ , 孫建 ² , 孫雷 ^3,4 , 李艷秋 ⁵ , 劉同同 ⁶ , 曹靜 ⁷ ,  王濤 ⁴

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2. ;
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6. ;
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Corresponding?author：

王濤, Email: wtandren@sina.com

Keywords：

Stickler綜合征; COL9A3基因; 病例報告

DOI：

10.3760/cma.j.cn511434-20230425-00188

Video：

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Citation： 高杰, 孫建, 孫雷, 李艷秋, 劉同同, 曹靜, 王濤. COL9A3基因新變異致Stickler綜合征一家系2例. Chinese Journal of Ocular Fundus Diseases, 2024, 40(4): 313-314. doi: 10.3760/cma.j.cn511434-20230425-00188 Copy

1.	Nixon TRW, Richards AJ, Martin H, et al. Autosomal recessive Stickler syndrome[J]. Genes (Basel), 2022, 13(7): 1135. DOI: 10.3390/genes13071135.
2.	Boothe M, Morris R, Robin N. Stickler syndrome: a review of clinical manifestations and the genetics evaluation[J]. J Pers Med, 2020, 10(3): 105. DOI: 10.3390/jpm10030105.
3.	Faletra F, D'Adamo AP, Bruno I, et al. Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene[J]. Am J Med Genet A, 2014, 164A(1): 42-47. DOI: 10.1002/ajmg.a.36165.
4.	Hanson-Kahn A, Li B, Cohn DH, et al. Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation[J]. Am J Med Genet A, 2018, 176(12): 2887-2891. DOI: 10.1002/ajmg.a.40647.
5.	Nixon TRW, Alexander P, Richards A, et al. Homozygous type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-expanding the phenotype[J]. Am J Med Genet A, 2019, 179(8): 1498-1506. DOI: 10.1002/ajmg.a.61191.
6.	Markova T, Sparber P, Borovikov A, et al. Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene[J/OL]. Mol Genet Genomic Med, 2021, 9(3): e1620[2021-01-11]. https://pubmed.ncbi.nlm.nih.gov/33570243/. DOI: 10.1002/mgg3.1620.
7.	Soliman MM, Macky TA. Pediatric rhegmatogenous retinal detachment[J]. Int Ophthalmol Clin, 2011, 51(1): 147-171. DOI: 10.1097/IIO.0b013e31820099c5.

1. Nixon TRW, Richards AJ, Martin H, et al. Autosomal recessive Stickler syndrome[J]. Genes (Basel), 2022, 13(7): 1135. DOI: 10.3390/genes13071135.
2. Boothe M, Morris R, Robin N. Stickler syndrome: a review of clinical manifestations and the genetics evaluation[J]. J Pers Med, 2020, 10(3): 105. DOI: 10.3390/jpm10030105.
3. Faletra F, D'Adamo AP, Bruno I, et al. Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene[J]. Am J Med Genet A, 2014, 164A(1): 42-47. DOI: 10.1002/ajmg.a.36165.
4. Hanson-Kahn A, Li B, Cohn DH, et al. Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation[J]. Am J Med Genet A, 2018, 176(12): 2887-2891. DOI: 10.1002/ajmg.a.40647.
5. Nixon TRW, Alexander P, Richards A, et al. Homozygous type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-expanding the phenotype[J]. Am J Med Genet A, 2019, 179(8): 1498-1506. DOI: 10.1002/ajmg.a.61191.
6. Markova T, Sparber P, Borovikov A, et al. Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene[J/OL]. Mol Genet Genomic Med, 2021, 9(3): e1620[2021-01-11]. https://pubmed.ncbi.nlm.nih.gov/33570243/. DOI: 10.1002/mgg3.1620.
7. Soliman MM, Macky TA. Pediatric rhegmatogenous retinal detachment[J]. Int Ophthalmol Clin, 2011, 51(1): 147-171. DOI: 10.1097/IIO.0b013e31820099c5.

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COL9A3基因新變異致Stickler綜合征一家系2例

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