Department of Neurology, Seattle Children's Hospital, University of Washington, Seattle, Washington.
Department of Genetics, Seattle Children's Hospital, Seattle, Washington.
Am J Med Genet A. 2018 Nov;176(11):2425-2429. doi: 10.1002/ajmg.a.40429. Epub 2018 Oct 5.
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.
我们报告了一例女性患者，携带 CASK 基因的新型杂合性、从头缺失突变（c.2179-2181delGTA，p.Val727del），表现为早发性婴儿痉挛、脑电图（EEG）上出现高波幅失律和磁共振成像（MRI）上出现额叶异常，但无小头畸形和桥小脑发育不良。这是文献中首例 CASK 基因框内缺失导致早发性婴儿痉挛和脑 MRI 上幕上局灶性脑畸形的病例报告。这也是首例报告 CASK 相关疾病女性患者出现 EEG 高波幅失律模式的病例。本报告扩展了女性 CASK 相关疾病的临床表型谱。该患者还报告了 RORA 中的杂合性新生突变（c.88C>G，p.Gln30Glu），为意义不明的变异。
