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Article

A novel single-base deletional mutation of MIP impairs protein distribution and cell-to-cell adhesion in autosomal dominant cataracts in a Chinese family.

American journal of medical genetics. Part A - 1 May 2024

Yu Yinhui, Qiao Yue, Ye Yang, Luo Chenqi, Yao Ke

Abstract excerpt

Congenital cataracts are the leading cause of irreversible visual disability in children, and genetic factors play an important role in their development. In this study, targeted exome sequencing revealed a novel single-base deletional mutation of MIP (c.301delG; p.Ala101Profs*16) segregated with congenital punctate cataract in a Chinese family. The hydrophobic properties, and secondary and tertiary structures...

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PMID: 38153133
DOI: 10.1002/ajmg.a.63504

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