{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T09:34:45Z","timestamp":1760866485806,"version":"3.41.2"},"reference-count":33,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,12,28]],"date-time":"2023-12-28T00:00:00Z","timestamp":1703721600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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\u2010base deletional mutation of <jats:italic>MIP<\/jats:italic> (c.301delG; p.Ala101Profs*16) segregated with congenital punctate cataract in a Chinese family. The hydrophobic properties, and secondary and tertiary structures for truncated MIP were predicted to affect the function of protein by bioinformatics analysis. When MIP\u2010WT and MIP\u2010Ala101fs expression constructs were singly transfected into HeLa cells, it was found that the mRNA level showed no significant difference, while the protein level of the mutant was remarkably reduced compared to that of the wild\u2010type MIP. Immunofluorescence images showed that the MIP\u2010WT was principally localized to the plasma membrane, whereas the MIP\u2010Ala101fs protein was aberrantly trapped in the cytoplasm. Furthermore, the cell\u2010to\u2010cell adhesion capability and the cell\u2010to\u2010cell communication property were both significantly reduced for MIP\u2010Ala101fs compared to the MIP\u2010WT (all *<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05). This is the first report of the c.301delG mutation in the <jats:italic>MIP<\/jats:italic> gene associated with autosomal dominant congenital cataracts. We propose that the cataract is caused by the decreased protein expression and reduced cell\u2010to\u2010cell adhesion by the mutant MIP. The impaired trafficking or instability of the mutant protein, as well as compromised intercellular communication is probably a concurrent result of the mutation. The results expand the genetic and phenotypic spectra of <jats:italic>MIP<\/jats:italic> and help to better understand the molecular basis of congenital cataracts.<\/jats:p>","DOI":"10.1002\/ajmg.a.63504","type":"journal-article","created":{"date-parts":[[2023,12,28]],"date-time":"2023-12-28T11:42:12Z","timestamp":1703763732000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A novel single\u2010base deletional mutation of <scp><i>MIP<\/i><\/scp> impairs protein distribution and cell\u2010to\u2010cell adhesion in autosomal dominant cataracts in a Chinese family"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1424-7250","authenticated-orcid":false,"given":"Yinhui","family":"Yu","sequence":"first","affiliation":[{"name":"Eye Center, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Zhejiang Provincial Key Laboratory of Ophthalmology, Zhejiang Provincial 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China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chenqi","family":"Luo","sequence":"additional","affiliation":[{"name":"Eye Center, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Zhejiang Provincial Key Laboratory of Ophthalmology, Zhejiang Provincial Clinical Research Center for Eye Diseases Zhejiang Provincial Engineering Institute on Eye Diseases  Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ke","family":"Yao","sequence":"additional","affiliation":[{"name":"Eye Center, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Zhejiang Provincial Key Laboratory of Ophthalmology, Zhejiang Provincial Clinical Research Center for Eye Diseases Zhejiang Provincial Engineering Institute on Eye Diseases  Hangzhou 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