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

Mala Isrie, Masoud Zamani Esteki, Hilde Peeters, Thierry Voet, Jeroen Van Houdt, Wim Van Paesschen, Hilde Van Esch

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11 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)205-210
Number of pages6
JournalEuropean journal of medical genetics
Issue number4
Publication statusPublished - 1 Jan 2015
Externally publishedYes


  • Consanguineous
  • Exome sequencing
  • Linkage
  • STYXL1

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