ArticleExperimental and therapeutic medicine2018
Identification of a missense mutation in MIP gene via mutation analysis of a Guangxi Zhuang ethnic pedigree with congenital nuclear cataracts.
Article in Experimental and therapeutic medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 5 citations in OpenAlex.
- Integrative Bioinformatics Analysis of mRNA Expression Profiles of Mice to Explore the Key Genes Involved in Crim1 Mutation-Induced Congenital Cataracts.Biochemical genetics · 2023Article
- Anterior Umbilication of Lens in a Family with Congenital Cataracts Associated with a Missense Mutation ofGenes · 2022Article
- The relationship between major intrinsic protein genes and cataract.International ophthalmology · 2021Review
- Genetic modifiers of rodent animal models: the role in cataractogenesis.Experimental animals · 2019Review
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4 authors at 1 institution in 1 country.
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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.
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