< Terug naar vorige pagina

Publicatie

Homozygous missense mutation in STYXL1 associated with moderate intellectual disability, epilepsy and behavioural complexities

Tijdschriftbijdrage - Tijdschriftartikel

The introduction of massive parallel sequencing has led to the identification of multiple novel genes for intellectual disability (ID) as well as epilepsy. Whereas dominant de novo mutations have been proven to be a leading cause for these disorders, they do not apply to families suggestive of an autosomal recessive inheritance pattern. In this study, we combined the use of linkage analysis with exome sequencing to elucidate the cause of moderate non-syndromic ID, epilepsy and behavioural problems in a consanguineous Iraqi family. A founder missense mutation was identified in STYXL1. We propose this as a novel candidate gene involved in ID, accompanied by seizures and behavioural problems. Our findings further confirm the genetic heterogeneity of cognitive disorders and genetic epilepsy.
Tijdschrift: European Journal of Medical Genetics
ISSN: 1769-7212
Issue: 4
Volume: 58
Pagina's: 205 - 10
Jaar van publicatie:2015
BOF-keylabel:ja
IOF-keylabel:ja
BOF-publication weight:1
CSS-citation score:1
Authors from:Higher Education
Toegankelijkheid:Open