Identification of two novel SLC19A3 variants in a Chinese patient with Biotin-thiamine responsive basal ganglia disease
10.3760/cma.j.issn.1003-9406.2020.02.016
- VernacularTitle:生物素-硫铵素反应性基底节病一家系SLC19A3基因的两个新变异
- Author:
Min GAO
1
;
Yan HUANG
;
Kaihui ZHANG
;
Yuqing LYU
;
Rui DONG
;
Jian MA
;
Dong WANG
;
Zhongtao GAI
;
Yi LIU
Author Information
1. 山东大学齐鲁儿童医院儿科研究所
- Keywords:
Biotin-thiamine responsive basal ganglia disease;
Developmental delay;
SLC19A3 gene
- From:
Chinese Journal of Medical Genetics
2020;37(2):162-165
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the genetic basis for a neonate featuring global developmental delay.Methods Clinical and laboratory tests were carried out for the patient.Peripheral venous blood samples were collected from the neonate and his parents for the extraction of DNA.Potential variant was detected by using targeted capture and next generation sequencing for a panel of genes associated with nervous system diseases.Suspected variant was validated by Sanger sequencing.Results The nine-month-old boy manifested global developmental delay and was unstable to sit alone and distinguish strangers from acquaintance.Genetic testing revealed two novel variants of the SLC19A3 gene in him,namely c.448G＞ A and c.169C＞T.The amino acids encoded by the two codons are highly conservative,and both variants were predicted to be pathogenic by bioinformatic analysis.Conclusion The compound heterozygous c.448G＞A and c.169C＞T variants probably underlay the onset of disease in the patient.Above finding also enriched the variant spectrum of SLC19A3 gene underlying Biotin-thiamine responsive basal ganglia disease.
