Clinical and genetic analysis of three children patients with Kleefstra syndrome.
10.3760/cma.j.cn511374-20201106-00782
- VernacularTitle:三例Kleefstra综合征患儿临床和遗传学分析
- Author:
Taocheng ZHOU
1
;
Guanglei TONG
;
Lijuan ZHU
;
Shaoxin LI
;
Hong LI
;
Wenxu DONG
Author Information
1. Department of Rehabilitation, Anhui Children's Hospital, Hefei, Anhui 230051, China. tong704@sina.com.
- Publication Type:Journal Article
- MeSH:
Child;
Chromosome Deletion;
Chromosomes, Human, Pair 9;
Craniofacial Abnormalities/genetics*;
DNA Copy Number Variations;
Developmental Disabilities/genetics*;
Heart Defects, Congenital;
Humans;
Intellectual Disability/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(2):148-151
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis of three children with unexplained developmental delay/intellectual disability (DD/ID).
METHODS:Peripheral blood samples were collected from the patients and subjected to chromosomal microarray analysis (CMA).
RESULTS:Patient 1 was found to harbor a 190 kb deletion at 9q34.3, which encompassed most of EHMT1 (OMIM 607001), the key gene for Kleefstra syndrome (OMIM 610253). Patients 2 and 3 were siblings. CMA showed that they have shared four chromosomal copy number variations (CNVs) including a deletion at 9q34.3 which spanned 154 kb and 149 kb, respectively, and encompassed the EHMT1 and CACNA1B (OMIM 601012) genes. The remaining 3 CNVs were predicted to be with no clinical significance.
CONCLUSION:Microdeletions at 9q33.4 probably underlay the pathogenesis of DD/ID in the three children, for which EHMT1 may be the key gene.
