Identification of Novel Mutations in the MMAA and MUT Genes among Methylmalonic Aciduria Families.

ABSTRACT:

Background

Methylmalonic aciduria is a rare inherited metabolic disorder with autosomal recessive inheritance pattern. There are still MMA patients without known mutations in the responsible genes. This study aimed to identify mutations in Iranian MMA families using autozygosity mapping and NGS.

Methods

Multiplex PCR was performed on DNAs isolated from 12 unrelated MMA patients and their family members using 19 STR markers flanking MUT, MMAA, and MMAB genes, followed by Sanger sequencing. WES was carried out in the patients with no mutation.

Results

Haplotype analysis and Sanger sequencing revealed two novel, mutations, A252Vf*5 and G87R, within the MMAA and MUT genes, respectively. Three patients showed no mutations in either autozygosity mapping or NGS analysis.

SUBMITTER: Jafari M 

PROVIDER: S-EPMC10826912 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature