Type

Journal Article

Authors

Mary D King
Sean Ennis
Sally A Lynch
Bryan Lynch
Amre Shahwan
Eoghan O'Halloran
Kathleen Gorman
Nicholas M Allen
Judith Conroy

Subjects

Psychiatry

Topics
ancestry european population variant neurodevelopmental disorder human genetics irish corpus callosum

Novel European SLC1A4 variant: infantile spasms and population ancestry analysis. (2015)

Abstract SLC1A4 deficiency is a recently described neurodevelopmental disorder associated with microcephaly, global developmental delay, abnormal myelination, thin corpus callosum and seizures. It has been mainly reported in the Ashkenazi-Jewish population with affected individuals homozygous for the p.Glu256Lys variant. Exome sequencing performed in an Irish proband identified a novel homozygous nonsense SLC1A4 variant [p.Trp453*], confirming a second case of SLC1A4-associated infantile spasms. As this is the first European identified, population ancestry analysis of the Exome Aggregation Consortium database was performed to determine the wider ethnic background of SLC1A4 deficiency carriers. p.Glu256Lys was found in Hispanic and South Asian populations. Other potential disease-causing variants were also identified. Investigation for SLC1A4 deficiency should be performed regardless of ethnicity and extend to include unexplained early-onset epileptic encephalopathy.Journal of Human Genetics advance online publication, 19 May 2016; doi:10.1038/jhg.2016.44.
Collections Ireland -> National University of Ireland Galway -> PubMed

Full list of authors on original publication

Mary D King, Sean Ennis, Sally A Lynch, Bryan Lynch, Amre Shahwan, Eoghan O'Halloran, Kathleen Gorman, Nicholas M Allen, Judith Conroy

Experts in our system

1
Mary D King
University College Dublin
Total Publications: 27
 
2
Sean Ennis
University College Dublin
Total Publications: 52
 
3
Sally Ann Lynch
University College Dublin
Total Publications: 32
 
4
Amre Shahwan
National University of Ireland Galway
Total Publications: 3
 
5
Kathleen Gorman
University College Dublin
Total Publications: 12
 
6
Nicholas M Allen
University College Dublin
Total Publications: 4
 
7
Judith Conroy
University College Dublin
Total Publications: 24