当前位置：
X-MOL 学术
›
Hum. Hered.
›
论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
A novel c.3636-4 A>G mutation in the CCDC88C plays a causative role in familial spinocerebellar ataxia.
Human Heredity ( IF 1.8 ) Pub Date : 2023-10-27 , DOI: 10.1159/000534692 Senmao Chai 1, 2 , Deyang Liu 3 , Yajing Liu 4 , Ming Sang 3
Human Heredity ( IF 1.8 ) Pub Date : 2023-10-27 , DOI: 10.1159/000534692 Senmao Chai 1, 2 , Deyang Liu 3 , Yajing Liu 4 , Ming Sang 3
Affiliation
INTRODUCTION
Spinocerebellar ataxia (SCA) is an autosomal dominant genetic disease characterized by cerebellar neurological deficits. Specifically, its primary clinical manifestation is ataxia accompanied by peripheral nerve damage. A total of 48 causative genes of SCA have been identified. This study aimed to identify causative genes of autosomal dominant SCA in a four-generation Chinese kindred comprised of eight affected individuals.
METHODS
Genomic DNA samples were extracted from the pedigree members, and genomic whole-exome sequencing (WES) was performed, followed by bidirectional Sanger sequencing, and minigene assays to identify mutation sites.
RESULTS
A novel pathogenic heterozygous mutation in the splice region of the coiled-coil domain containing the 88C (CCDC88C) gene (NM_001080414:c.3636-4 A>G) was identified in four affected members. The minigene assay results indicated that this mutation leads to the insertion of CAG bases (c.3636-1_3636-3 insCAG).
CONCLUSION
CCDC88C gene mutation leads to SCA40 (OMIM:616053), which is a rare subtype of SCA without symptoms during childhood. Our findings further demonstrated the role of the CCDC88C gene in SCA and indicated that the c.3636-4 A>G (NM_001080414) variant of CCDC88C is causative for a later-onset phenotype of SCA40. Our findings enrich the mutation spectrum of CCDC88C gene and provide a theoretical basis for the genetic counseling of SCA40.
更新日期：2023-10-27
京公网安备 11010802027423号