Novel SACS Compound Heterozygous Mutations Of ARSACS In A Chinese Family And A Review Of The Literature

Objective :We share a Han Chinese ARSACS family caused by a novel compound heterozygous mutations in SACS,based on a review of the literature.We describe and discuss the clinical and images features of the patients.In addition,we analyse and explore the relationship between compound heterozygous mutations of SACS and the manifestations.Patients and Methods:Two brothers are patients,both of them have typical clinical features,according to their manifestatins,physical examination,family history and typical MRI features,genetic ataxia is considered.After obtaining with informed consent,High-throughput next-generation sequencing test the DNA extracted from peripheral blood,then using the BWA algorithm and bioinformatics software analyse datas,the next step is verificating the mutation loci and pathogenic analysis by Sanger sequence.Results :Two new SACS mutations,c.4726G>T;p.(Glu1576*)and 8330-8331delGG;p.(Arg2777fs),were identified in these patients via gene sequencing.Both mutations occurred in exon 10,and two SACS genes constituted compound heterozygous mutations.These new SACS mutations have not been previously reported,and,according to the Sanger sequencing,these mutations were pathogenic.Conclusions:Our results illustrate the complexity and diversity of the clinical manifestations of compound heterozygous mutations in the SACS gene,indicating the necessity of SACS gene screening in patients with hereditary ataxia.The new SACS gene mutation locuses found in these Han patients have enriched our knowledge and provided an additional basis for the genetic diagnosis of ARSACS.