Journal
EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 58, Issue 4, Pages 205-210Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2015.02.006
Keywords
STYXL1; Consanguineous; Linkage; Exome sequencing
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Funding
- Concerted Research Actions KULeuven [GOA/12/015]
- Belgian Science Policy Office Interuniversity Attraction Poles (BELSPO-IAP) [IAP P7/43-BeMGI]
- Stichting Studiefonds KETEL 1
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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 Asian 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. (C) 2015 Elsevier Masson SAS. All rights reserved.
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