Clinical and genetic analysis of three children with KBG syndrome due to novel variants of ANKRD11 gene.
10.3760/cma.j.cn511374-20211117-00915
- VernacularTitle:ANKRD11基因新变异所致KBG综合征患儿3例的临床及遗传学分析
- Author:
Li WANG
1
;
Jingjing LI
;
Jinghan XU
;
Yanlei XU
;
Junbo WANG
;
Yin FENG
;
Xiangdong KONG
Author Information
1. Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
Female;
Child;
Humans;
Abnormalities, Multiple/genetics*;
Intellectual Disability/genetics*;
Bone Diseases, Developmental/genetics*;
Tooth Abnormalities/genetics*;
Facies;
Repressor Proteins/genetics*;
Mothers;
Mutation
- From:
Chinese Journal of Medical Genetics
2023;40(1):1-6
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical and genetic characteristics of three children with KBG syndrome.
METHODS:Clinical data of the three children from two families who have presented at the First Affiliated Hospital of Zhengzhou University between October 2019 and September 2020 and their family members were collected. Trio-whole exome sequencing (trio-WES) and Sanger sequencing were carried out.
RESULTS:All children had feeding difficulties, congenital heart defects and facial dysmorphism. The sib- pair from family 1 was found to harbor a novel de novo heterozygous c.6270delT (p.Q2091Rfs*84) variant of the ANKRD11 gene, whilst the child from family 2 was found to harbor a novel heterozygous c.6858delC (p.D2286Efs*51) variant of the ANKRD11 gene, which was inherited from his mother who had a mild clinical phenotype.
CONCLUSION:The heterozygous frameshift variants of the ANKRD11 gene probably underlay the disease in the three children. Above findings have enriched the spectrum of the ANKRD11 gene variants.
