Guo Wei, Zhao Yanguo, Li Shuwei, Wang Jingqun, Liu Xiang
Department of Neonatology, Xingtai People's Hospital, Xingtai, 054031, Hebei, China.
BMC Med Genet. 2020 Oct 2;21(1):193. doi: 10.1186/s12881-020-01117-8.
Kabuki syndrome (KS) is a rare congenital condition with cardinal manifestations of typical facial features, developmental delays, skeletal anomalies, abnormal dermatoglyphic presentations, and mild to moderate intellectual disability. Pathogenic variants in two epigenetic modifier genes, KMT2D and KDM6A, are responsible for KS1 and KS2, respectively.
A Chinese girl had persistent neonatal hypoglycemia and Dandy-Walker variant. Whole-exome sequencing identified a novel single nucleotide deletion in KMT2D (NM_003482.3 c.12165del p.(Glu4056Serfs*10)) that caused frameshift and premature termination. The mutation was de novo. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, this variant is considered pathogenic. The patient was diagnosed with KS by molecular testing.
A single novel mutation in KMT2D was identified in a KS patients with hypoglycemia and Dandy-Walker variant in the neonatal stage. A molecular test was conducted to diagnose KS at an early stage.
歌舞伎综合征（KS）是一种罕见的先天性疾病，主要表现为典型的面部特征、发育迟缓、骨骼异常、异常皮纹表现以及轻度至中度智力障碍。两个表观遗传修饰基因KMT2D和KDM6A中的致病变异分别导致KS1和KS2。
一名中国女孩患有持续性新生儿低血糖和Dandy-Walker变异。全外显子测序在KMT2D基因中发现了一个新的单核苷酸缺失（NM_003482.3 c.12165del p.(Glu4056Serfs*10)），该缺失导致移码和提前终止。该突变是新发的。根据美国医学遗传学与基因组学学会（ACMG）的指南，此变异被认为是致病性的。通过分子检测，该患者被诊断为KS。
在一名新生儿期患有低血糖和Dandy-Walker变异的KS患者中鉴定出KMT2D基因的一个新突变。通过分子检测在早期诊断出KS。
