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Article

Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis.

Eye (London, England) - 1 Aug 2018

Long Xigui, Huang Yanru, Tan Hu, Li Zhuo, Zhang Rui, Linpeng Siyuan, Lv Weigang, Cao Yingxi, Li Haoxian, Liang Desheng, Wu Lingqian

Abstract excerpt

PURPOSE: To detect the underlying pathogenesis of congenital cataract in a four-generation Chinese family. METHODS: Whole-exome sequencing (WES) of family members (III:4, IV:4, and IV:6) was performed. Sanger sequencing and bioinformatics analysis were subsequently conducted. Full-length WT-MIP or K228fs-MIP fused to HA markers at the N-terminal was transfected into HeLa cells. Next, quantitative real-time PCR,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29695758
DOI: 10.1038/s41433-018-0084-5
PMCID: PMC6085365

Genes

MIP

Variants

Provenance

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