Genetic analysis of two children with developmental delay and intellectual disability.
10.3760/cma.j.cn511374-20220318-00181
- Author:
Fengyang WANG
1
;
Na QI
;
Yue GAO
;
Dong WU
;
Mengting ZHANG
;
Qian ZHANG
;
Ke YANG
;
Huijuan PENG
;
Xingxing LEI
;
Shixiu LIAO
Author Information
1. Henan Provincial Institute of Medical Genetics, People's Hospital of Zhengzhou University, Henan Provincial People's Hospital, Zhengzhou, Henan 450003, China. 1130812837@qq.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Child;
Female;
Child, Preschool;
Intellectual Disability/genetics*;
Comparative Genomic Hybridization;
Chromosome Disorders/genetics*;
Chromosome Deletion;
Magnetic Resonance Imaging;
Chromosomes, Human, Pair 22;
Developmental Disabilities/genetics*;
Carrier Proteins/genetics*;
Nerve Tissue Proteins/genetics*
- From:
Chinese Journal of Medical Genetics
2023;40(7):876-880
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic etiology of two patients with developmental delay and intellectual disability.
METHODS:Two children who were respectively admitted to Henan Provincial People's Hospital on August 29, 2021 and August 5, 2019 were selected as the study subjects. Clinical data were collected, and array comparative genomic hybridization (aCGH) was carried out on the children and their parents for the detection of chromosomal microduplication/microdeletions.
RESULTS:Patient 1 was a 2-year-and-10-month female and patient 2 was a 3-year-old female. Both children had featured developmental delay, intellectual disability, and abnormal findings on cranial MRI. aCGH revealed that patient 1 has harbored arr[hg19] 6q14.2q15(84621837_90815662)×1, a 6.19 Mb deletion at 6q14.2q15, which encompassed ZNF292, the pathogenic gene for Autosomal dominant intellectual developmental disorder 64. Patient 2 has harbored arr[hg19] 22q13.31q13.33(46294326_51178264)×1, a 4.88 Mb deletion at 22q13.31q13.33 encompassing the SHANK3 gene, haploinsufficiency of which can lead to Phelan-McDermid syndrome. Both deletions were classified as pathogenic CNVs based on the guidelines of American College of Medical Genetics and Genomics (ACMG) and were not found in their parents.
CONCLUSION:The 6q14.2q15 deletion and 22q13-31q13.33 deletion probably underlay the developmental delay and intellectual disability in the two children, respectively. Haploinsufficiency of the ZNF292 gene may account for the key clinical features of the 6q14.2q15 deletion.
