Analysis of ADNP gene variant in a child with Helsmoortel-van der Aa syndrome.
10.3760/cma.j.cn511374-20201113-00797
- Author:
Jian MA
1
;
Haixia MA
;
Kaihui ZHANG
;
Yuqiang LYU
;
Min GAO
;
Dong WANG
;
Zhongtao GAI
;
Yi LIU
Author Information
1. Jinan Pediatric Research Institute, Children' s Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China. liuyi-ly@126.com.
- Publication Type:Journal Article
- MeSH:
Abnormalities, Multiple/genetics*;
Autism Spectrum Disorder/genetics*;
Autistic Disorder/genetics*;
Child;
Heterozygote;
Homeodomain Proteins/genetics*;
Humans;
Intellectual Disability/genetics*;
Mutation;
Nerve Tissue Proteins/genetics*;
Rare Diseases
- From:
Chinese Journal of Medical Genetics
2022;39(4):428-432
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a child manifesting with intellectual disability, language delay and autism spectrum disorder.
METHODS:Genomic DNA was extracted from peripheral blood samples of the child and his family members, and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing and interpreted according to the guidelines of the American College of Medical Genetics and Genomics.
RESULTS:The child was found to harbor a heterozygous c.568C>T (p.Q190X) nonsense variant of the ADNP gene, which was not detected in either parent by Sanger sequencing.
CONCLUSION:The clinical and genetic testing both suggested that the child has Helsmoortel-van der Aa syndrome due to ADNP gene mutation, which is extremely rare in China.
