Novel MIP gene mutation causes autosomal-dominant congenital cataract

Ni, Jing-Lan1; Wen, Hua-Ming2; Huang, Xiao-Sheng3; Li, Qian-Wen4; Cai, Jia-Min3; Fan, Bao-Jian5,6; Zhao, Jun7,8

2024-03-18

10.18240/ijo.2024.03.06

INTERNATIONAL JOURNAL OF OPHTHALMOLOGY   影响因子和分区

2222-3959

2227-4898

["AIM: To identify disease-causative mutations in families with congenital cataract.","METHODS: Two Chinese families with autosomal-dominant congenital cataract (ADCC) were recruited and underwent comprehensive eye examinations. Gene panel next-generation sequencing of common pathogenic genes of congenital cataract was performed in the proband of each family. Sanger sequencing was used to valid the candidate gene mutations and sequence the other family members for co-segregation analysis. The effect of sequence changes on protein structure and function was predicted through bioinformatics analysis. Major intrinsic protein (MIP)-wildtype and MIP-G29R plasmids were constructed and microinjected into zebrafish single-cell stage embryos. Zebrafish embryonic lens phenotypes were screened using confocal microscopy.","RESULTS: A novel heterozygous mutation (c.85G>A; p.G29R) in the MIP gene was identified in the proband of one family. A known heterozygous mutation (c.97C>T; p.R33C; rs864309693) in MIP was found in the proband of another family. In-silico prediction indicated that the novel mutation might affect the MIP protein function. Zebrafish embryonic lens was uniformly transparent in both wild-type PCS2+MIP and mutant PCS2+MIP.","CONCLUSION: Two missense mutations in the MIP gene in Chinese cataract families are identified, and one of which is novel. These findings expand the genetic spectrum of MIP mutations associated with cataracts. The functional studies suggest that the novel MIP mutation might not be a gain-of-function but a loss-of-function mutation."]

congenital cataract major intrinsic protein missense mutation zebrafish model

SCI

英语

通讯

Science, Technology and Innovation Commission of Shenzhen Municipality[GJHZ20220913142618036]

Ophthalmology

Ophthalmology

WOS:001181265300002

IJO PRESS

Web of Science

1.Jinan Univ, Clin Med Coll 2, Shenzhen 518020, Guangdong, Peoples R China
2.Dongguan Changan Hosp, Dept Ophthalmol, Dongguan 523843, Guangdong, Peoples R China
3.Jinan Univ, Shenzhen Eye Hosp, Shenzhen Eye Inst, Shenzhen 518040, Guangdong, Peoples R China
4.Shenzhen Univ, Shenzhen Stomatol Hosp, Dept Oral & Maxillofacial Surg, Shenzhen 518040, Guangdong, Peoples R China
5.Massachusetts Gen Hosp, Dept Neurosurg, Boston, MA 02114 USA
6.Harvard Med Sch, Boston, MA 02114 USA
7.Jinan Univ, Shenzhen Peoples Hosp, Clin Med Coll 2, Dept Ophthalmol, Shenzhen 518020, Guangdong, Peoples R China
8.Southern Univ Sci & Technol, Affiliated Hosp 1, Shenzhen 518020, Guangdong, Peoples R China

Ni, Jing-Lan,Wen, Hua-Ming,Huang, Xiao-Sheng,et al. Novel MIP gene mutation causes autosomal-dominant congenital cataract[J]. INTERNATIONAL JOURNAL OF OPHTHALMOLOGY,2024,17(3).

Ni, Jing-Lan.,Wen, Hua-Ming.,Huang, Xiao-Sheng.,Li, Qian-Wen.,Cai, Jia-Min.,...&Zhao, Jun.(2024).Novel MIP gene mutation causes autosomal-dominant congenital cataract.INTERNATIONAL JOURNAL OF OPHTHALMOLOGY,17(3).

Ni, Jing-Lan,et al."Novel MIP gene mutation causes autosomal-dominant congenital cataract".INTERNATIONAL JOURNAL OF OPHTHALMOLOGY 17.3(2024).