Clinical and genetic characteristics of four children with Kabuki syndrome due to de novo variants of KMT2D gene
10.3760/cma.j.cn511374-20230425-00235
- VernacularTitle:KMT2D基因新发变异所致歌舞伎综合征4例患儿的临床及遗传学特征
- Author:
Haizhen FAN
1
;
Yanmei WANG
;
Yunhong WU
;
Lifang JIA
;
Lihong WANG
;
Yansheng SHEN
Author Information
1. 山西省儿童医院神经内科，太原 030013
- Keywords:
Kabuki syndrome;
KMT2D gene;
Peculiar facial appearance;
Developmental delay;
Urinary malformation
- From:
Chinese Journal of Medical Genetics
2024;41(5):546-550
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical and genetic characteristics of four children with Kabuki syndrome (KS) due to variants of KMT2D gene. Methods:Four children with KS diagnosed at the Children′s Hospital of Shanxi Province between January 2020 and December 2022 were selected as the study subjects. Whole exome sequencing was carried out for the children and their family members. Candidate variants were verified by Sanger sequencing and pathogenicity analysis.Results:The KS phenotype scores for the four children were 7, 8, 6, and 6, respectively. Child 2 also presented with a rare solitary kidney malformation. Genetic testing revealed that all children had harbored novel de novo variants of the KMT2D gene, including c. 16472_16473del, c. 858dup, c. 11899C>T, and c. 12844C>T, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), all of the variants were classified as pathogenic. Conclusion:For children showing phenotypes such as distinctive facial features, intellectual disability, developmental delay, cardiac abnormalities, and urinary system anomalies, KS should be considered. Early diagnosis and intervention can be achieved through genetic testing, especially in the presence of KMT2D gene mutations.
