Article
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.
American journal of human genetics - 6 Apr 2012
Schossig Anna, Wolf Nicole I, Fischer Christine, Fischer Maria, Stocker Gernot, Pabinger Stephan, Dander Andreas, Steiner Bernhard, Tönz Otmar, Kotzot Dieter, Haberlandt Edda, Amberger Albert, Burwinkel Barbara, Wimmer Katharina, Fauth Christine, Grond-Ginsbach Caspar, Koch Martin J, Deichmann Annette, von Kalle Christof, Bartram Claus R, Kohlschütter Alfried, Trajanoski Zlatko, Zschocke Johannes
Abstract excerpt
Kohlschütter-Tönz syndrome (KTS) is an autosomal-recessive disease characterized by the combination of epilepsy, psychomotor regression, and amelogenesis imperfecta. The molecular basis has not yet been elucidated. Here, we report that KTS is caused by mutations in ROGDI. Using a combination of autozygosity mapping and exome sequencing, we identified a homozygous frameshift deletion, c.229_230del...
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