Analysis of clinical features and ATRX gene variants in a Chinese pedigree affected with X-linked alpha thalassemia mental retardation (ATR-X) syndrome.
10.3760/cma.j.cn511374-20210702-00565
- Author:
Rui DONG
1
;
Yali YANG
;
Hui GUO
;
Min GAO
;
Yuqiang LYU
;
Yue LI
;
Xiaomeng YANG
;
Yi LIU
Author Information
1. Institute of Pediatric Research, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China. liuyi-ly@126.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Infant;
Male;
alpha-Thalassemia/diagnosis*;
Ataxia Telangiectasia Mutated Proteins/genetics*;
East Asian People;
Intellectual Disability/genetics*;
Mental Retardation, X-Linked/diagnosis*;
Pedigree;
X-linked Nuclear Protein/genetics*
- From:
Chinese Journal of Medical Genetics
2023;40(12):1508-1511
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical characteristics and genetic basis of two brothers featuring X-linked alpha thalassemia mental retardation (ATR-X) syndrome.
METHODS:An infant who had presented at the Qilu Children's Hospital in 2020 for unstable upright head and inability to roll over and his family were selected as the study subjects. The clinical features of the child and one of his brothers were summarized, and their genomic DNA was subjected to targeted capture and next generation sequencing (NGS).
RESULTS:The brothers had presented with mental retardation and facial dysmorphisms. NGS revealed that they had both harbored a hemizygous c.5275C>A variant of the ATRX gene located on the X chromosome, which was inherited from their mother.
CONCLUSION:The siblings were diagnosed with ATR-X syndrome. The discovery of the c.5275C>A variant has enriched the mutational spectrum of the ATRX gene.
