Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Department of Paediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Mol Genet Genomic Med. 2021 Jan;9(1):e1533. doi: 10.1002/mgg3.1533. Epub 2020 Dec 15.
Wiedemann-Steiner Syndrome (WSS) is an autosomal dominant genetic condition caused by mutations in the KMT2A gene. Lysine methyltransferase, encoded by KMT2A, plays critical roles in the regulation of gene expression during early development.
Trio-based whole exome sequencing (Trio-WES) was performed on a 15 months old Chinese girl and her two parents by MyGenostics (Beijing, China) using the Illumina HiSeq X ten system. Variants were confirmed with Sanger sequencing. She exhibited mild/moderate intellectual disability (ID), hypotonia, hypertrichosis cubiti, hypertrichosis on the back, dysmorphic facies, psychomotor retardation, growth delay, small and puffy hands, fat pads anterior to calcanei, and palmar/plantar grooves.
Trio-WES revealed a novel de novo mutation of KMT2A gene (NM_001197104.1: c.3566G>T, p.Cys1189Phe). WSS was diagnosed based on WES and clinical features.
Our findings expand the phenotypic and mutation spectra of WSS.
Wiedemann-Steiner 综合征（WSS）是一种常染色体显性遗传疾病，由 KMT2A 基因突变引起。KMT2A 编码的赖氨酸甲基转移酶在早期发育过程中基因表达的调控中发挥着关键作用。
使用 MyGenostics（中国北京）的 Illumina HiSeq X ten 系统对一名 15 个月大的中国女孩及其父母进行基于三亲的全外显子组测序（Trio-WES）。通过 Sanger 测序对变体进行了确认。她表现出轻度/中度智力残疾（ID）、肌张力低下、肘上多毛症、背部多毛症、畸形面容、精神运动发育迟缓、生长迟缓、手小而肿胀、跟骨前脂肪垫和手掌/足底沟。
Trio-WES 揭示了 KMT2A 基因的一个新的从头突变（NM_001197104.1：c.3566G>T，p.Cys1189Phe）。根据 WES 和临床特征诊断为 WSS。
我们的发现扩展了 WSS 的表型和突变谱。
