Rapid Whole-genome Sequencing Identifies a Novel Variant Associated with West Syndrome

Overview

Journal Cold Spring Harb Mol Case Stud

Specialty Genetics

Date 2017 Sep 3

PMID 28864462

Citations 15

Authors

Lauge Farnaes

Shareef A Nahas

Shimul Chowdhury

James Nelson

Serge Batalov

David M Dimmock

Stephen F Kingsmore

Affiliations

Soon will be listed here.

Abstract

A 9-mo-old infant was admitted with infantile spasms that improved on administration of topiramate and steroids. He also had developmental delay, esotropia, and hypsarrhythmia on interictal electroencephalogram (EEG), and normal brain magnetic resonance imaging (MRI). West syndrome is the triad of infantile spasms, interictal hypsarrhythmia, and mental retardation. Rapid trio whole-genome sequencing (WGS) revealed a novel, likely pathogenic, de novo variant in the gene encoding γ-aminobutyric acid (GABA) type A receptor, α1 polypeptide ( c.789G>A, p.Met263Ile) in the proband. mutations have been associated with early infantile epileptic encephalopathy type 19 (EIEE19). We suggest that p.Met263Ile is associated with a distinct West syndrome phenotype.

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