Premium
A de novo in‐frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient
Author(s) -
Bozarth Xiuhua,
Foss Kimberly,
Mefford Heather C.
Publication year - 2018
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.40429
Subject(s) - hypsarrhythmia , cask , magnetic resonance imaging , medicine , hypoplasia , epileptic spasms , microcephaly , west syndrome , epilepsy , pediatrics , radiology , biology , genetics , psychiatry
We report a female patient with a novel, heterozygous, de novo in‐frame deletion in the CASK gene (c.2179–2181 del GTA, p.Val727del) who presents with early onset infantile spasms, hypsarrhythmia on electroencephalogram (EEG), and frontal lobe abnormalities on brain magnetic resonance imaging (MRI) without microcephaly and pontocerebellar hypoplasia. This is the first case report of an in‐frame deletion in the CASK gene causing early onset infantile spasms and supratentorial focal brain malformation on brain MRI in the literature. This is also the first report of a female with CASK‐ related disorder with hypsarrhythmia pattern on EEG. This report expands the clinical phenotypic spectrum in CASK ‐related disorders in female patients. A heterozygous de novo variant in RORA (c.88 C>G, p.Gln 30Glu) was reported in this patient as a variant of uncertain significance.