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. Issue 8 (5th May 2014)

• Record Type: Journal Article
• Authors: Platzer, Konrad; Hüning, Irina; Obieglo, Carolin; Schwarzmayr, Thomas; Gabriel, Rainer; Strom, Tim M.; Gillessen‐Kaesbach, Gabriele; Kaiser, Frank J.
• Is Part Of: American journal of medical genetics. Volume 164:Issue 8(2014.)
• Page Start: 1976
• Page End: 1980
• Publication Date: 2014-05-05
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36592
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36592-sec-0001" sec-type="section"> <p>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 <italic>C12orf57</italic> 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 <italic>C12orf57</italic> identified by exome sequencing, including a novel nonsense mutation, and review the patients described in the literature. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>