A study published in the European Journal of Genetics identified a subset of rare non-synonymous coding variants in the GNPTAB, GNPTG, and NAGPA genes that may account for as much as 16% of persistent stuttering cases. Stuttering is a common speech disorder shown to have strong genetic contributions. In a worldwide sample of over 1,000 unrelated individuals with non-syndromic persistent stuttering, researchers found 164 individuals who carried a rare non-synonymous coding variant in one of these three genes.
Researchers compared the frequency of these variants with those in population-matched control and genomic databases, and also compared the location of these variants with those reported in mucoplipidosis. Stuttering subjects displayed an excess of non-synonymous coding variants compared to controls and individuals in the 1000 Genomes and Exome Sequencing Project databases. The study identified 81 different variants in stuttering cases, the majority of which were missense substitutions. Of these, one variant was previously reported in mucolipidosis, a disease frequently associated with complete loss-of-function mutations. Samples from the NINDS Human Genetic Repository were used for this study.
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