Analysis of a case of Kabuki syndrome due to a novel variant of KMT2D gene
10.3760/cma.j.cn511374-20221105-00761
- VernacularTitle:KMT2D基因变异相关歌舞伎综合征1例的遗传学分析
- Author:
Juan HUANG
1
;
Qiuyu LI
;
Wei JI
;
Xiaofeng GUO
;
Shaoyong LIN
;
Xiaohong HU
Author Information
1. 福建省儿童医院心内科，福州 350011
- Keywords:
Development disabilities;
Kabuki syndrome;
KMT2D gene;
Genetic variant
- From:
Chinese Journal of Medical Genetics
2024;41(3):356-362
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To report on a case of Kabuki syndrome (KS) due to a novel variant of KMT2D gene. Methods:A child diagnosed with KS at the Fujian Children′s Hospital on July 25, 2022 was selected as the study subject. Whole exome sequencing was carried out for the child and her parents. Candidate variant was validated by Sanger sequencing and bioinformatic analysis.Results:The child, a 4-month-old female, had presented with distinctive facial features, growth retardation, cardiac malformations, horseshoe kidney, hypothyroidism, and recurrent aspiration pneumonia. Whole exome sequencing revealed that she has harbored a heterozygous c. 6285dup (p.Lys2096Ter) variant of the KMT2D gene. Sanger sequencing confirmed that neither of her parents had carried the same variant. The variant was previously unreported, and may result in a truncated protein and loss of an enzymatic activity region. The corresponding site of the variant is highly conserved. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PVS1+ PS2+ PM2_Supporting). Conclusion:The c. 6285 dup variant of the KMT2D gene probably underlay the KS in this child.
