Title: Homozygous missense mutation in STYXL1 associated with moderate intellectual disability, epilepsy and behavioural complexities
Authors: Isrie, Mala
Zamani Esteki, Masoud
Peeters, Hilde
Voet, Thierry
Van Houdt, Jeroen
Van Paesschen, Wim
Van Esch, Hilde # ×
Issue Date: Apr-2015
Publisher: Elsevier
Series Title: European Journal of Medical Genetics vol:58 issue:4 pages:205-10
Article number: S1769-7212(15)00038-5
Abstract: 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.
ISSN: 1769-7212
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Genetics of Cognition
Laboratory of Reproductive Genomics
Laboratory for Cytogenetics and Genome Research
Laboratory for Epilepsy Research
× corresponding author
# (joint) last author

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