Analysis of a case with Xia-Gibbs syndrome due to variant of AHDC1 gene.
10.3760/cma.j.cn511374-20210807-00656
- Author:
Lijuan FAN
1
,
2
;
Yang LI
;
Huan LUO
;
Yajun SHEN
;
Meng YUAN
;
Zuozhen YANG
;
Jing GAN
Author Information
1. Department of Pediatrics, West China Second University Hospital, Sichuan University
2. Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Sichuan University, Chengdu, Sichuan 610041, China. gordonrachel@163.com.
- Publication Type:Journal Article
- MeSH:
Abnormalities, Multiple/genetics*;
Child;
DNA-Binding Proteins/genetics*;
Humans;
Intellectual Disability/genetics*;
Muscle Hypotonia;
Mutation;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2022;39(4):397-400
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical and genetic characteristics of a child featuring Xia-Gibbs syndrome.
METHODS:Whole exome sequencing was carried out for the child.
RESULTS:The patient has presented with developmental delay, hypotonia, strabismus and snoring. Cranial MRI revealed hypomyelination, while the EEGs were normal. Genetic testing revealed a de novo variant of the AHDC1 gene, namely c.730delA (p.Ile244Serfs*16), which was classified as pathogenic (PVS1+PS2+PM2). Together with 60 cases from the literature, individuals harboring a AHDC1 variant commonly have delayed motor milestones, speech delay, facial dysmorphism and hypotonia. Dysgenesis of corpus callosum is also common. In total 47 AHDC1 variants have been reported, among which truncating variants were the most common type.
CONCLUSION:The c.730delA (p.Ile244Serfs*16) variant of the AHDC1 gene probably underlay the Xia-Gibbs syndrome in this patient. Above finding has provided a basis for the clinical diagnosis.
