Identification of a missense mutation in MIP gene via mutation analysis of a Guangxi Zhuang ethnic pedigree with congenital nuclear cataracts

Zhou,Zhou; Li,Li; Lu,Lu; Min,Li

doi:10.3892/etm.2018.6557

Identification of a missense mutation in MIP gene via mutation analysis of a Guangxi Zhuang ethnic pedigree with congenital nuclear cataracts

Authors:
- Zhou Zhou
- Li Li
- Lu Lu
- Li Min
View Affiliations

Affiliations: Department of Ophthalmology, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530021, P.R. China
Published online on: August 1, 2018 https://doi.org/10.3892/etm.2018.6557
Pages: 3256-3260

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )

Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )

Cited By (CrossRef): 0 citations Loading Articles...

Abstract

At present, congenital cataract is the world's leading cause of blindness among children. The aim of the present study was to determine and analyze the genetic disorder associated with a congenital nuclear cataract in a three‑generation family of Guangxi Zhuang ethnicity. A total of 3 affected individuals and 5 unaffected family members underwent appropriate comprehensive medical examinations, mainly of the eyes. The white blood cells of the family members were collected and genomic DNA was extracted from 100 healthy individuals, as the control group. The sequences of candidate genes were determined by polymerase chain reaction amplification followed by direct sequencing. The functional consequences of the mutation were analysed with biology software. A missense mutation (c.97C>T) was found in exon 1 of major intrinsic protein of lens fiber (MIP) gene. Therefore, the arginine of the highly conserved codon 33 was changed to cysteine. This mutation was identified in the affected family members, but not identified in unaffected family members or the 100 normal controls. The mutation in the MIP gene is the genetic cause of the congenital cataract in the ethnic Guangxi Zhuang family.

View Figures

View References

1	Gralek M, Kanigowska K and Seroczynska M: Cataract in children-not only an ophthalmological problem. Med Wieku Rozwoj. 11:227–230. 2007.(In Polish). PubMed/NCBI
2	Kong XD, Liu N, Shi HR, Dong JM, Zhao ZH, Liu J, Li-Ling J and Yang YX: A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring autosomal dominant congenital perinuclear cataract. Genet Mol Res. 14:426–432. 2015. View Article : Google Scholar : PubMed/NCBI
3	Jiao X, Khan SY, Irum B, Khan AO, Wang Q, Kabir F, Khan AA, Husnain T, Akram J, Riazuddin S, et al: Missense mutations in CRYAB are liable for recessive congenital cataracts. PLoS One. 10:e01379732015. View Article : Google Scholar : PubMed/NCBI
4	Khan AO, Aldahmesh MA and Alkuraya FS: Phenotypes of recessive pediatric cataract in a cohort of children with identified homozygous gene mutations (an american ophthalmological society thesis). Trans Am Ophthalmol Soc. 113:T72015.PubMed/NCBI
5	Zhou G, Zhou N, Hu S, Zhao L, Zhang C and Qi Y: A missense mutation in CRYBA4 associated with congenital cataract and microcornea. Mol Vis. 16:1019–1024. 2010.PubMed/NCBI
6	Wu Q, Shi H, Liu N, Lu N, Jiang M, Zhao Z and Kong X: Mutation analysis of CRYBB1 gene and prenatal diagnosis for a chinese kindred featuring autosomal dominant congenital nuclear cataract. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 30:266–269. 2013.(In Chinese). PubMed/NCBI
7	Faletra F, d'Adamo AP, Pensiero S, Athanasakis E, Catalano D, Bruno I and Gasparini P: A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family. Ophthalmic Genet. 34:115–117. 2013. View Article : Google Scholar : PubMed/NCBI
8	Li D, Wang S, Ye H, Tang Y, Qiu X, Fan Q, Rong X, Liu X, Chen Y, Yang J and Lu Y: Distribution of gene mutations in sporadic congenital cataract in a han chinese population. Mol Vis. 22:589–598. 2016.PubMed/NCBI
9	Prokudin I, Simons C, Grigg JR, Storen R, Kumar V, Phua ZY, Smith J, Flaherty M, Davila S and Jamieson RV: Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. Eur J Hum Genet. 22:907–915. 2014. View Article : Google Scholar : PubMed/NCBI
10	Yang G, Chen Z, Zhang W, Liu Z and Zhao J: Novel mutations in CRYGD are associated with congenital cataracts in Chinese families. Sci Rep. 6:189122016. View Article : Google Scholar : PubMed/NCBI
11	Yang Z, Li Q, Zhu S and Ma X: A G57W Mutation of CRYGS associated with autosomal dominant pulverulent cataracts in a chinese family. Ophthalmic Genet. 36:281–283. 2015. View Article : Google Scholar : PubMed/NCBI
12	Liu L, Zhang Q, Zhou LX and Tang ZH: A novel HSF4 mutation in a Chinese family with autosomal dominant congenital cataract. J Huazhong Univ Sci Technolog Med Sci. 35:316–318. 2015. View Article : Google Scholar : PubMed/NCBI
13	Ye X, Zhang G, Dong N and Meng Y: Human pituitary homeobox-3 gene in congenital cataract in a chinese family. Int J Clin Exp Med. 8:22435–22439. 2015.PubMed/NCBI
14	Narumi Y, Nishina S, Tokimitsu M, Aoki Y, Kosaki R, Wakui K, Azuma N, Murata T, Takada F, Fukushima Y and Kosho T: Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: A clinical report and review of literature. Am J Med Genet A. 164A:1272–1276. 2014. View Article : Google Scholar : PubMed/NCBI
15	Wang H, Zhang T, Wu D and Zhang J: A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a chinese family. Mol Vis. 19:2590–2595. 2013.PubMed/NCBI
16	Liu Q, Wang KJ and Zhu SQ: A novel p.G112E mutation in BFSP2 associated with autosomal dominant pulverulent cataract with sutural opacities. Curr Eye Res. 39:1013–1019. 2014. View Article : Google Scholar : PubMed/NCBI
17	Qin L, Guo L, Wang H, Li T, Lou G, Guo Q, Hou Q, Liu H, Liao S and Liu Z: A novel MIP mutation in familial congenital nuclear cataracts. Eur J Med Genet. 59:488–491. 2016. View Article : Google Scholar : PubMed/NCBI
18	Zhu Y, Yu H, Wang W, Gong X and Yao K: A novel GJA8 mutation (p.V44A) causing autosomal dominant congenital cataract. PLoS One. 9:e1154062014. View Article : Google Scholar : PubMed/NCBI
19	Li B, Liu Y, Liu Y, Guo H, Hu Z, Xia K and Jin X: Identification of a GJA3 mutation in a large family with bilateral congenital cataract. DNA Cell Biol. 35:135–139. 2016. View Article : Google Scholar : PubMed/NCBI
20	Pras E, Levy-Nissenbaum E, Bakhan T, Lahat H, Assia E, Geffen-Carmi N, Frydman M, Goldman B and Pras E: A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family. Am J Hum Genet. 70:1363–1367. 2002. View Article : Google Scholar : PubMed/NCBI
21	Happ H, Weh E, Costakos D, Reis LM and Semina EV: Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract. BMC Med Genet. 17:642016. View Article : Google Scholar : PubMed/NCBI
22	Shiels A, Bennett TM, Knopf HL, Yamada K, Yoshiura K, Niikawa N, Shim S and Hanson PI: CHMP4B a novel gene for autosomal dominant cataracts linked to chromosome 20q. Am J Hum Genet. 81:596–606. 2007. View Article : Google Scholar : PubMed/NCBI
23	Jamieson RV, Farrar N, Stewart K, Perveen R, Mihelec M, Carette M, Grigg JR, McAvoy JW, Lovicu FJ, Tam PP, et al: Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene TMEM114 expressed in the lens and disrupted by the translocation. Hum Mutat. 28:968–977. 2007. View Article : Google Scholar : PubMed/NCBI
24	Ramensky V, Bork P and Sunyaev S: Human non-synonymous SNPs: Server and survey. Nucleic Acids Res. 30:3894–3900. 2002. View Article : Google Scholar : PubMed/NCBI
25	Gonen T, Cheng Y, Kistler J and Walz T: Aquaporin-0 membrane junctions form upon proteolytic cleavage. J Mol Biol. 342:1337–1345. 2004. View Article : Google Scholar : PubMed/NCBI
26	Chepelinsky AB: Structural function of MIP/aquaporin 0 in the eye lens; genetic defects lead to congenital inherited cataracts. Handb Exp Pharmacol. 265–297. 2009. View Article : Google Scholar : PubMed/NCBI
27	Shiels A, Bennett TM and Hejtmancik JF: Cat-Map: Putting cataract on the map. Mol Vis. 16:2007–2015. 2010.PubMed/NCBI
28	Varadaraj K, Kumari SS, Patil R, Wax MB and Mathias RT: Functional characterization of a human aquaporin 0 mutation that leads to a congenital dominant lens cataract. Exp Eye Res. 87:9–21. 2008. View Article : Google Scholar : PubMed/NCBI
29	Gu F, Zhai H, Li D, Zhao L, Li C, Huang S and Ma X: A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese family. Mol Vis. 13:1651–1656. 2007.PubMed/NCBI
30	Ma AS, Grigg JR, Ho G, Prokudin I, Farnsworth E, Holman K, Cheng A, Billson FA, Martin F, Fraser C, et al: Sporadic and familial congenital cataracts: Mutational spectrum and new diagnoses using next-generation sequencing. Hum Mutat. 37:371–384. 2016. View Article : Google Scholar : PubMed/NCBI
31	Guangxi Statistics Bureau: Main data bulletin of the sixth national census in Guangxi, . 2010.Guangxi Statistics Bureau. http://www.gxtj.gov.cn/tjsj/tjgb/rkpc/201107/t20110701_2168.htmlNovember 1st, 2010.