Original Article
Clinical and genetic analysis of three children patients with Kleefstra syndrome
Zhou Taocheng, Tong Guanglei, Zhu Lijuan, Li Shaoxing, Li Hong, Dong Wenxu
Published 2022-02-10
Cite as Chin J Med Genet, 2022, 39(2): 148-151. DOI: 10.3760/cma.j.cn511374-20201106-00782
Abstract
ObjectiveTo explore the genetic basis of three children with unexplained developmental delay/intellectual disability (DD/ID).
MethodsPeripheral blood samples were collected from the patients and subjected to chromosomal microarray analysis (CMA).
ResultsPatient 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.
ConclusionMicrodeletions at 9q33.4 probably underlay the pathogenesis of DD/ID in the three children, for which EHMT1 may be the key gene.
Key words:
Chromosomal microarray analysis; Kleefstra syndrome; EHMT1 gene; Developmental delay; Intellectual disability
Contributor Information
Zhou Taocheng
Department of Rehabilitation, Anhui Children’s Hospital, Hefei, Anhui 230051, China
Tong Guanglei
Department of Rehabilitation, Anhui Children’s Hospital, Hefei, Anhui 230051, China
Zhu Lijuan
Department of Clinical Laboratory, Anhui Children’s Hospital, Hefei, Anhui 230051, China
Li Shaoxing
Department of Rehabilitation, Anhui Children’s Hospital, Hefei, Anhui 230051, China
Li Hong
Department of Rehabilitation, Anhui Children’s Hospital, Hefei, Anhui 230051, China
Dong Wenxu
Department of Rehabilitation, Anhui Children’s Hospital, Hefei, Anhui 230051, China
