Human mutation · 2012
Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.
СтатьяПоддержка NIH: внешняя программаResearch Support, N.I.H., IntramuralНазвание и аннотация: Перевод в очереди
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Tucci Arianna, Kara Eleanna, Schossig Anna, Wolf Nicole I, Plagnol Vincent, Fawcett Katherine, Paisán-Ruiz Coro, Moore Matthew, Hernandez Dena, Musumeci Sebastiano, Tennison Michael, Hennekam Raoul, Palmeri Silvia, Malandrini Alessandro, Raskin Salmo, Donnai Dian, Hennig Corina, Tzschach Andreas, Hordijk Roel, Bast Thomas, Wimmer Katharina, Lo Chien-Ning, Shorvon Simon, Mefford Heather, Eichler Evan E, Hall Roger, Hayes Ian, Hardy John, Singleton Andrew, Zschocke Johannes, Houlden Henry
Аннотация
Kohlschütter-Tönz syndrome (KTS) is a rare autosomal recessive disorder characterized by amelogenesis imperfecta, psychomotor delay or regression and seizures starting early in childhood. KTS was established as a distinct clinical entity after the first report by Kohlschütter in 1974, and to date, only a total of 20 pedigrees have been reported. The genetic etiology of KTS remained elusive until recently when mutations in ROGDI were independently identified in three unrelated families and in five likely related Druze families. Herein, we report a clinical and genetic study of 10 KTS families. By using a combination of whole exome sequencing, linkage analysis, and Sanger sequencing, we identify novel homozygous or compound heterozygous ROGDI mutations in five families, all presenting with a typical KTS phenotype. The other families, mostly presenting with additional atypical features, were negative for ROGDI mutations, suggesting genetic heterogeneity of atypical forms of the disease.