{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T05:11:45Z","timestamp":1773724305665,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,5,13]],"date-time":"2013-05-13T00:00:00Z","timestamp":1368403200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the \u03b1B\u2010crystallin gene (<jats:italic><jats:styled-content style=\"fixed-case\">CRYAB<\/jats:styled-content><\/jats:italic>) have been reported in desmin\u2010related myopathies, with or without cardiac involvement. Mutations in this gene have also been documented in large multi\u2010generation families with autosomal dominant congenital posterior pole cataract (CPPC). In these congenital cataract families no cardiac or muscular phenotype was reported. This report describes a family with an unusual read\u2010through mutation in <jats:italic><jats:styled-content style=\"fixed-case\">CRYAB<\/jats:styled-content><\/jats:italic>, leading to the elongation of the normal \u03b1B\u2010crystallin protein with 19 amino acid residues. Affected family members combine a CPPC with an adult onset dilated cardiomyopathy (<jats:styled-content style=\"fixed-case\">DCM<\/jats:styled-content>), thereby expanding the \u03b1B\u2010crystallinopathy phenotype. Repolarisation abnormalities preceded the onset of cardiomyopathy and were already present in childhood. No skeletal myopathy was observed. This report illustrates that congenital cataract can be a prelude to more severe disease even outside the context of inborn errors of metabolism. The identification of a <jats:italic><jats:styled-content style=\"fixed-case\">CRYAB<\/jats:styled-content><\/jats:italic> mutation in this family supports the notion that mutations in this gene are a rare cause of genetically determined DCM. The combined congenital cataract\/cardiomyopathy phenotype adds to our understanding of the complex phenotypic spectrum of \u03b1B\u2010crystallinopathies.<\/jats:p>","DOI":"10.1111\/cge.12169","type":"journal-article","created":{"date-parts":[[2013,4,16]],"date-time":"2013-04-16T18:06:22Z","timestamp":1366135582000},"page":"381-385","source":"Crossref","is-referenced-by-count":25,"title":["Congenital posterior pole cataract and adult onset dilating cardiomyopathy: expanding the phenotype of \u03b1B\u2010crystallinopathies"],"prefix":"10.1111","volume":"85","author":[{"given":"J.J.","family":"van der 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