Diagnosis of a patient with Spinocerebellar ataxia type 29 due to a novel variant of ITPR1 gene.
10.3760/cma.j.cn511374-20220110-00022
- Author:
Ya Nan ZHI
1
;
Jiao LIU
;
Cheng ZHEN
;
Juan LI
;
Fangna WANG
;
Yan LUO
;
Pingping ZHANG
;
Mingming ZHANG
;
Yali LI
Author Information
1. Department of Reproductive and Genetics, Hebei General Hospital, Shijiazhuang, Hebei 050051, China. lyl8703@sina.com.
- Publication Type:Journal Article
- MeSH:
Child;
Humans;
Family;
Inositol 1,4,5-Trisphosphate Receptors/genetics*;
Mutation;
Spinocerebellar Ataxias/genetics*;
Spinocerebellar Degenerations
- From:
Chinese Journal of Medical Genetics
2023;40(1):76-80
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical and genetic characteristics of a child with spinocerebellar ataxia type 29 (SCA29) due to novel variant of the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) gene.
METHODS:The child was subjected high-throughput sequencing, and candidate variant was verified by Sanger sequencing of his family members.
RESULTS:The child was found to harbor a c.800C>T (p.T267M) variant of the ITPR1 gene, which was not found in his parents and their fetus. The variant has occurred in a hotspot of the ITPR1 gene variants and was unreported before in China. Based on his clinical and genetic characteristics, the child was diagnosed with SCA29.
CONCLUSION:The novel heterozygous c.800C>T (p.T267M) of the ITPR1 gene probably underlay the SCA29 in this child.