PuSH - Publikationsserver des Helmholtz Zentrums München

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 möglich sobald Postprint bei der ZB eingereicht worden ist.
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.
Altmetric
Weitere Metriken?
[➜Einloggen]
Zusatzinfos bearbeiten [➜Einloggen]
Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter 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
Zeitschrift American Journal of Medical Genetics, Part A
Quellenangaben Band: 164, Heft: 8, Seiten: 1976-1980 Artikelnummer: , Supplement: ,
Verlag Wiley
Verlagsort Hoboken
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)