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

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...

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Published in:European journal of medical genetics 2015-04, Vol.58 (4), p.205-210
Main Authors: Isrie, Mala, Zamani Esteki, Masoud, Peeters, Hilde, Voet, Thierry, Van Houdt, Jeroen, Van Paesschen, Wim, Van Esch, Hilde
Format: Article
Language:English
Subjects:
Adolescent
Adult
Apoptosis Regulatory Proteins - genetics
Asian Continental Ancestry Group
Base Sequence
Consanguineous
Epilepsy - genetics
Exome - genetics
Exome sequencing
Family
Female
Genetic Linkage
High-Throughput Nucleotide Sequencing
Humans
Intellectual Disability - genetics
Linkage
Male
Medical Education
Mutation, Missense - genetics
Problem Behavior - psychology
Sequence Analysis, DNA
STYXL1
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Summary: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 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.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2015.02.006