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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)
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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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
0148-7299
e-ISSN
1096-8628
Zeitschrift
American Journal of Medical Genetics, Part A
Quellenangaben
Band: 164,
Heft: 8,
Seiten: 1976-1980
Verlag
Wiley
Verlagsort
Hoboken
Nichtpatentliteratur
Publikationen
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Human Genetics (IHG)