伴<i>COL2A1</i>基因突变的Stickler综合征一家系3例_Chinese Journal of Ocular Fundus Diseases

Authors：

涂书 ,  尹虹

北京大学人民医院眼科北京大学人民医院眼视光中心视网膜脉络膜疾病诊治研究北京市重点实验室眼病与视光医学研究所, 北京 100044;

Corresponding author：

尹虹, Email: yh6386@126.com

Keywords：

Stickler综合征; COL2A1基因突变; 病例报告

DOI：

10.3760/cma.j.cn511434-20220507-00278

Video：

Export PDF Favorites Scan Get Citation

Abstract Full text Figures/Tables Video References Cited by

Citation： 涂书, 尹虹. 伴COL2A1基因突变的Stickler综合征一家系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.

Previous Article
Leber多发性粟粒状视网膜动脉瘤病3例临床特征分析
Next Article
白蛋白结合型紫杉醇致双眼黄斑水肿1例

Chinese Journal of Ocular Fundus Diseases

伴COL2A1基因突变的Stickler综合征一家系3例

Abstract Full text Figures/Tables Video References Cited by

Previous Article

Next Article

Format

Content