伴<i>COL2A1</i>基因突變的Stickler綜合征一家系3例_Chinese Journal of Ocular Fundus Diseases

Authors：

涂書 ,  尹虹

北京大學人民醫院眼科北京大學人民醫院眼視光中心視網膜脈絡膜疾病診治研究北京市重點實驗室眼病與視光醫學研究所, 北京 100044;

Corresponding?author：

尹虹, Email: yh6386@126.com

Keywords：

Stickler綜合征; COL2A1基因突變; 病例報告

DOI：

10.3760/cma.j.cn511434-20220507-00278

Video：

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Citation： 涂書, 尹虹. 伴COL2A1基因突變的Stickler綜合征一家系3例. Chinese Journal of Ocular Fundus Diseases, 2023, 39(10): 849-850. doi: 10.3760/cma.j.cn511434-20220507-00278 Copy

1.	Stickler GB, Belau PG, Farrell FJ, et al. Hereditary progressive arthro-ophthalmopathy[J]. Mayo Clin Proc, 1965, 40: 433-455.
2.	Temple IK. Stickler's syndrome[J]. J Med Genet, 1989, 26(2): 119-126. DOI: 10.1136/jmg.26.2.119.
3.	Karempelis P, Hagen M, Morrell N, et al. Associated syndromes in patients with Pierre Robin Sequence[J/OL]. Int J Pediatr Otorhinolaryngol, 2020, 131: 109842[2019-12-30]. https://doi.org/10.1016/j.ijporl.2019.109842. DOI: 10.1016/j.ijporl.2019.109842.
4.	Snead MP, Yates JR. Clinical and molecular genetics of Stickler syndrome[J]. J Med Genet, 1999, 36(5): 353-359. DOI: 10.1136/jmg.36.5.353.
5.	Vintiner GM, Temple IK, Middleton-Price HR, et al. Genetic and clinical heterogeneity of Stickler syndrome[J]. Am J Med Genet, 1991, 41(1): 44-48. DOI: 10.1002/ajmg.1320410113.
6.	Hoornaert KP, Vereecke I, Dewinter C, et al. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients[J]. Eur J Hum Genet, 2010, 18(8): 872-880. DOI: 10.1038/ejhg.2010.23.
7.	Bath F, Swanson D, Zavala H, et al. Hearing outcomes in Stickler syndrome: variation due to COL2A1 and COL11A1[J]. Cleft Palate Craniofac J, 2022, 59(8): 970-975. DOI: 10.1177/105566 56211029519.
8.	Sirko-Osadsa DA, Murray MA, Scott JA, et al. Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(Ⅺ) chain of type Ⅺ collagen[J]. J Pediatr, 1998, 132(2): 368-371. DOI: 10.1016/s0022-3476(98)70466-4.
9.	Chan TK, Alkaabi MK, Elbarky AM, et al. LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome[J]. Clin Genet, 2019, 95(2): 325-328. DOI: 10.1111/cge.13465.
10.	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.
11.	Fincham GS, Pasea L, Carroll C, et al. Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol[J]. Ophthalmology, 2014, 121(8): 1588-1597. DOI: 10.1016/j.ophtha.2014.02.022.
12.	Naravane AV, Belin PJ, Pierce B, et al. Risk and prevention of retinal detachments in patients with Stickler syndrome[J]. Ophthalmic Surg Lasers Imaging Retina, 2022, 53(1): 7-11. DOI: 10.3928/23258160-20211213-02.

1. Stickler GB, Belau PG, Farrell FJ, et al. Hereditary progressive arthro-ophthalmopathy[J]. Mayo Clin Proc, 1965, 40: 433-455.
2. Temple IK. Stickler's syndrome[J]. J Med Genet, 1989, 26(2): 119-126. DOI: 10.1136/jmg.26.2.119.
3. Karempelis P, Hagen M, Morrell N, et al. Associated syndromes in patients with Pierre Robin Sequence[J/OL]. Int J Pediatr Otorhinolaryngol, 2020, 131: 109842[2019-12-30]. https://doi.org/10.1016/j.ijporl.2019.109842. DOI: 10.1016/j.ijporl.2019.109842.
4. Snead MP, Yates JR. Clinical and molecular genetics of Stickler syndrome[J]. J Med Genet, 1999, 36(5): 353-359. DOI: 10.1136/jmg.36.5.353.
5. Vintiner GM, Temple IK, Middleton-Price HR, et al. Genetic and clinical heterogeneity of Stickler syndrome[J]. Am J Med Genet, 1991, 41(1): 44-48. DOI: 10.1002/ajmg.1320410113.
6. Hoornaert KP, Vereecke I, Dewinter C, et al. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients[J]. Eur J Hum Genet, 2010, 18(8): 872-880. DOI: 10.1038/ejhg.2010.23.
7. Bath F, Swanson D, Zavala H, et al. Hearing outcomes in Stickler syndrome: variation due to COL2A1 and COL11A1[J]. Cleft Palate Craniofac J, 2022, 59(8): 970-975. DOI: 10.1177/105566 56211029519.
8. Sirko-Osadsa DA, Murray MA, Scott JA, et al. Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(Ⅺ) chain of type Ⅺ collagen[J]. J Pediatr, 1998, 132(2): 368-371. DOI: 10.1016/s0022-3476(98)70466-4.
9. Chan TK, Alkaabi MK, Elbarky AM, et al. LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome[J]. Clin Genet, 2019, 95(2): 325-328. DOI: 10.1111/cge.13465.
10. 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.
11. Fincham GS, Pasea L, Carroll C, et al. Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol[J]. Ophthalmology, 2014, 121(8): 1588-1597. DOI: 10.1016/j.ophtha.2014.02.022.
12. Naravane AV, Belin PJ, Pierce B, et al. Risk and prevention of retinal detachments in patients with Stickler syndrome[J]. Ophthalmic Surg Lasers Imaging Retina, 2022, 53(1): 7-11. DOI: 10.3928/23258160-20211213-02.

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Chinese Journal of Ocular Fundus Diseases

伴COL2A1基因突變的Stickler綜合征一家系3例

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