A case of 10p15.3 microdeletion syndrome detected by whole exome sequencing.
10.3760/cma.j.issn.1003-9406.2019.04.010
- VernacularTitle:全外显子测序检测10p15.3微缺失综合征一例
- Author:
Wenjie CHEN
1
;
Na FU
;
Jingjing LIANG
;
Jiong QIN
Author Information
1. Department of Pediatrics, Peking University People's Hospital, Beijing 100044, China. Email: qinjiong@pkuph.edu.cn.
- Publication Type:Case Reports
- MeSH:
Carrier Proteins;
Chromosome Deletion;
Chromosomes, Human, Pair 10;
Exome;
GTP-Binding Proteins;
Humans;
Intellectual Disability;
Nuclear Proteins;
Phenotype;
Tubulin;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2019;36(4):331-335
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To report on a case of 10p15.3 microdeletion syndrome and to explore its clinical and molecular characteristics.
METHODS:The patient was subjected to whole exome sequencing (WES), with his clinical features discussed in the light of literature review.
RESULTS:The patient presented with global developmental delay, hypotonia, autistic-like traits, mild facial dysmorphism and other features including short stature, small hands and feet, congenital heart disease and feeding difficulty. WES has detected deletions of ZMYND11, DIP2C, LARP4B, TUBB8, GTPBP4, IDI2, IDI1, WOR37 and ADARB2 genes on the short arm of chromosome 10. Among these, ZMYND11 gene been previously associated with intellectual disability.
CONCLUSION:The patient's phenotype was closely correlated with that of 10p15.3 microdeletion syndrome. Haploinsufficiency of the ZMYND11 gene may underlie the manifestations of 10p15.3 microdeletion syndrome.
