Tucci, A; Kara, E; Schossig, A; Wolf, NI; Plagnol, V; Fawcett, K; ... Houlden, H; + view all Tucci, A; Kara, E; Schossig, A; Wolf, NI; Plagnol, V; Fawcett, K; Paisán-Ruiz, C; Moore, M; Hernandez, D; Musumeci, S; Tennison, M; Hennekam, R; Palmeri, S; Malandrini, A; Raskin, S; Donnai, D; Hennig, C; Tzschach, A; Hordijk, R; Bast, T; Wimmer, K; Lo, CN; Shorvon, S; Mefford, H; Eichler, EE; Hall, R; Hayes, I; Hardy, J; Singleton, A; Zschocke, J; Houlden, H; - view fewer (2013) Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. Hum Mutat , 34 (2) 296 - 300. 10.1002/humu.22241.
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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.
|Title:||Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.|
|Keywords:||Amelogenesis Imperfecta, Child, Preschool, Dementia, Epilepsy, Exome, Female, Gene Deletion, Genetic Heterogeneity, Genetic Linkage, Humans, Infant, Male, Membrane Proteins, Mutation, Nuclear Proteins, Pedigree, Phenotype, Sequence Analysis, DNA|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Clinical and Experimental Epilepsy|
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Molecular Neuroscience
UCL > School of Life and Medical Sciences > Faculty of Life Sciences > Biosciences (Division of) > Genetics, Evolution and Environment > UCL Genetics Institute
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