Genetics Analysis in a Congenital Cataract Pedigree Associated with a Missense Mutation in GJA8 gene

Yanbo KONG; Haoan YI; Minjun MA; Guojiu WU; Xinyu FAN; Fan LI; Yongshu HE; Xu ZHA

doi:10.12259/j.issn.2095-610X.S20220305

Volume 43 Issue 3

Mar. 2022

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Article Navigation > Journal of Kunming Medical University > 2022 > 43(3): 27-31

Yanbo KONG, Haoan YI, Minjun MA, Guojiu WU, Xinyu FAN, Fan LI, Yongshu HE, Xu ZHA. Genetics Analysis in a Congenital Cataract Pedigree Associated with a Missense Mutation in GJA8 gene[J]. Journal of Kunming Medical University, 2022, 43(3): 27-31. doi: 10.12259/j.issn.2095-610X.S20220305

Citation:

Yanbo KONG, Haoan YI, Minjun MA, Guojiu WU, Xinyu FAN, Fan LI, Yongshu HE, Xu ZHA. Genetics Analysis in a Congenital Cataract Pedigree Associated with a Missense Mutation in GJA8 gene[J]. Journal of Kunming Medical University, 2022, 43(3): 27-31. doi: 10.12259/j.issn.2095-610X.S20220305

Citation:

Yanbo KONG, Haoan YI, Minjun MA, Guojiu WU, Xinyu FAN, Fan LI, Yongshu HE, Xu ZHA. Genetics Analysis in a Congenital Cataract Pedigree Associated with a Missense Mutation in GJA8 gene[J]. Journal of Kunming Medical University, 2022, 43(3): 27-31. doi: 10.12259/j.issn.2095-610X.S20220305

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Genetics Analysis in a Congenital Cataract Pedigree Associated with a Missense Mutation in GJA8 gene

doi: 10.12259/j.issn.2095-610X.S20220305

1.
Dept. of Ophthalmology，The 2nd Affiliated Hospital of Kunming Medical University，Kunming Yunnan 650101
2.
Dept. of Cell Biology and Medical Genetics，Kunming Medical University，Kunming Yunnan 650500
3.
The Medical school，Yunnan University， Kunming Yunnan 650500 ，China

Received Date: 2022-01-04
Available Online: 2022-02-18
Publish Date: 2022-03-22

Abstract

Abstract

Objective To analyze the clinical manifestations in a congenital cataract pedigree and the genetic etiology was identified using exon sequencing. Methods A family with congenital cataract admitted to the Second Affiliated Hospital of Kunming Medical University in June 2020. A comprehensive ophthalmological examination and physical examination was conducted with the family members. Peripheral blood from proband and 6 relatives were collected, and genomic DNA was extracted. The potential pathogenic genes were screened by whole exome sequencing, pathogenicity analysis of suspected gene mutations was performed using bioinformatics tools, and the mutations were identified using Sanger sequencing in all pedigree members. Results A missense mutation c.593G > A,p.R198Q was identified in GJA8 gene by Exon sequencing and bioinformatics analysis. The GJA8 gene is one of gene family encoding gap junction protein. The amino acids affected by this mutations site are highly conserved between species and the mutation was considered pathogenic according to the Guidelines of the American College of Medical Genetics and Genomics （ACMG）. Sanger sequencing results in all in the family showed that the proband and other patients with congenital cataract all carried the mutation, while the mutation was not detected in healthy people in the family, and the mutation was co-separated with the disease phenotype, presenting autosomal dominant inheritance. Conclusions Our study shows that missense mutation c.593G > A,p.R198Q located in the GJA8 gene is the genetic cause of congenital cataract in this family, and the inheritance mode is autosomal dominant inheritance.
- Congenital cataract,
- GJA8 gene,
- Missense mutation,
- Pedigree

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References(24)

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