Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures

Konrad Platzer, Irina Hüning, Carolin Obieglo, Thomas Schwarzmayr, Rainer Gabriel, Tim M. Strom, Gabriele Gillessen-Kaesbach, Frank J. Kaiser*

*Korrespondierende/r Autor/-in für diese Arbeit
3 Zitate (Scopus)

Abstract

In patients with genetically heterogeneous disorders such as intellectual disability or epilepsy, exome sequencing is a powerful tool to elucidate the underlying genetic cause. Homozygous and compound heterozygous mutations in C12orf57 have recently been described to cause an autosomal recessive syndromic form of intellectual disability, including agenesis/hypoplasia of the corpus callosum, optic coloboma, and intractable seizures. Here, we report on two siblings from nonconsanguineous parents harboring two compound heterozygous loss-of-function mutations in C12orf57 identified by exome sequencing, including a novel nonsense mutation, and review the patients described in the literature.

OriginalspracheEnglisch
ZeitschriftAmerican Journal of Medical Genetics, Part A
Jahrgang164
Ausgabenummer8
Seiten (von - bis)1976-1980
Seitenumfang5
ISSN1552-4825
DOIs
PublikationsstatusVeröffentlicht - 01.01.2014

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