{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T08:57:49Z","timestamp":1791536269951,"version":"4.3.4"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,1,4]],"date-time":"2005-01-04T00:00:00Z","timestamp":1104796800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Medizinischer Forschungsfond Tirol","award":["79"],"award-info":[{"award-number":["79"]}]},{"name":"Austrian Science Fund research (to A.R.J.)","award":["P17174"],"award-info":[{"award-number":["P17174"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Keratitis\u2010ichthyosis\u2010deafness syndrome (KID; MIM 148210) is a rare congenital disorder characterized by vascularizing keratitis, sensorineural hearing loss (HL), and progressive erythrokeratoderma. Clinical variability including a fatal course of KID in the first year of life has been reported. Germline missense mutations in <jats:italic>GJB2<\/jats:italic>, encoding connexin\u201026, were recently found to cause KID in 14 unrelated juvenile and adult patients. We identified a de novo <jats:italic>GJB2<\/jats:italic> mutation G45E in a patient displaying the fatal form of the disease. No mutations were detected in five other connexin and mitochondrial genes. The G45E mutation was not reported previously in Caucasian patients but was the third most common GJB2 mutation (16% of disease alleles) in Japanese patients with autosomal recessive non\u2010syndromic HL. This finding suggests different modes of action of the same GJB2 mutation depending on the genetic background. This hypothesis was further substantiated by our observation of a variable clinical course in unrelated KID patients from Austria harboring the common D50N mutation in <jats:italic>GJB2<\/jats:italic>. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30515","type":"journal-article","created":{"date-parts":[[2005,1,4]],"date-time":"2005-01-04T22:47:04Z","timestamp":1104878824000},"page":"128-131","source":"Crossref","is-referenced-by-count":85,"title":["<i>GJB2<\/i> mutations in keratitis\u2010ichthyosis\u2010deafness syndrome including its fatal form"],"prefix":"10.1002","volume":"133A","author":[{"given":"Andreas R.","family":"Janecke","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans 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