Farnaes Lauge, Nahas Shareef A, Chowdhury Shimul, Nelson James, Batalov Serge, Dimmock David M, Kingsmore Stephen F
Rady Children's Institute of Genomic Medicine (RCIGM), San Diego, California 92123, USA.
Department of Neurosciences, University of California, San Diego, La Jolla, California 92093, USA.
Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5). doi: 10.1101/mcs.a001776. Print 2017 Sep.
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.
一名9个月大的婴儿因婴儿痉挛症入院，服用托吡酯和类固醇后症状有所改善。他还存在发育迟缓、内斜视，发作间期脑电图（EEG）显示有高度节律失调，而脑磁共振成像（MRI）正常。韦斯特综合征是由婴儿痉挛症、发作间期高度节律失调和智力发育迟缓组成的三联征。快速三联全基因组测序（WGS）显示，先证者编码γ-氨基丁酸（GABA）A型受体α1多肽的基因中存在一个新的、可能致病的新生变异（c.789G>A，p.Met263Ile）。这些突变与19型早期婴儿癫痫性脑病（EIEE19）有关。我们认为p.Met263Ile与一种独特的韦斯特综合征表型相关。
