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Platzer, K.* ; Hüning, I.* ; Obieglo, C.* ; Schwarzmayr, T. ; Gabriel, R.* ; Strom, T.M. ; Gillessen-Kaesbach, G.* ; Kaiser, F.J.*

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.

Am. J. Med. Genet. A 164, 1976-1980 (2014)
DOI
Open Access Green as soon as Postprint is submitted to ZB.
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.
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Publication type Article: Journal article
Document type Scientific Article
Keywords C12orf57 Gene ; Corpus Callosum ; Epilepsy ; Intellectual Disability ; Intractable Seizures ; Optic Coloboma; Craniofacial Dysmorphism; Ocular Colobomas; Temtamy-syndrome; Translocation; Agenesis; Genes; 2p24; 9q32
ISSN (print) / ISBN 1552-4825
e-ISSN 1552-4833
Journal American Journal of Medical Genetics, Part A
Quellenangaben Volume: 164, Issue: 8, Pages: 1976-1980 Article Number: , Supplement: ,
Publisher Wiley
Publishing Place Hoboken
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)