Article
Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel.
Pediatric neurology - 1 Apr 2014
Mory Adi, Dagan Efrat, Shahor Ishai, Mandel Hanna, Illi Barbara, Zolotushko Jenny, Kurolap Alina, Chechik Emilia, Valente Enza M, Amselem Serge, Gershoni-Baruch Ruth
Abstract excerpt
BACKGROUND: Kohlschutter-Tonz syndrome (KTS; MIM 22675) is a rare autosomal recessive disorder characterized by intellectual impairment, spasticity, epilepsy, and amelogenesis imperfecta. We have recently identified the causative gene and mutation underlying KTS, namely, p.R157X, corresponding to ROGDI c.571C>T, which creates a premature stop codon in ROGDI homolog (Drosophila), a gene of unknown function, in KTS...
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