Genetic and clinical analysis of TP73 gene in amyotrophic lateral sclerosis patients from Chinese mainland.

ABSTRACT:

Introduction

TP73 was recently identified as a novel causative gene for amyotrophic lateral sclerosis (ALS). We aimed to determine the contribution of variations in TP73 in the Chinese ALS population and to further explore the genotype-phenotype correlations.

Methods

We screened rare, putative pathogenic TP73 mutations in a large Chinese ALS cohort and performed association analysis of both rare and common TP73 variations between cases and controls.

Results

Of the 985 ALS patients studied, six rare, heterozygous putative pathogenic variants in TP73 were identified among six unrelated sALS patients. Exon 14 of TP73 might be a mutant hotspot in our cohort. Patients with ALS with only rare, putative pathogenic TP73 mutatio

SUBMITTER: Tang X 

PROVIDER: S-EPMC9947132 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature