Identification of a novel mutation in metabotropic glutamate receptor 1 causing autosomal recessive spinocerebellar ataxia-13 in a Pakistani family. | Synapse
February 8, 20260 citations
Identification of a novel mutation in metabotropic glutamate receptor 1 causing autosomal recessive spinocerebellar ataxia-13 in a Pakistani family.
This research aims to identify genetic mutations related to autosomal recessive spinocerebellar ataxia-13.
Identified a novel mutation in the GRM1 gene.
Conducted genetic analysis in a Pakistani family.
Reviewed existing variants of the GRM1 gene.
Increased the total number of GRM1 variants to eight.
Provided information useful for prenatal screening and genetic counseling.
Abstract
This study raised the total number of GRM1 variants to eight and would be helpful in prenatal screening, genetic counseling, and carrier testing of other members in the Pakistani community.