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

European Journal of Medical Genetics
Mala IsrieHilde Van Esch

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.

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Citations

Sep 14, 2017·International Journal of Molecular Sciences·Noopur BhoreYung-Feng Liao
Apr 15, 2017·Biochemical Society Transactions·Arya Dahal, Shantá D Hinton
Jun 3, 2020·The FEBS Journal·Veronika ReitererHesso Farhan
Aug 6, 2018·Biochimica Et Biophysica Acta. Molecular Cell Research·Shantá D Hinton
Jul 3, 2021·International Journal of Molecular Sciences·Andrew M MatteiShantá D Hinton
Nov 28, 2021·International Journal of Molecular Sciences·Emma Marie Wilber Hepworth, Shantá D Hinton

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