Evaluation of recurrent GNPTAB, GNPTG, and NAGPA variants associated with stuttering
Open Access
- 20 May 2021
- journal article
- research article
- Published by Wiley in Advanced Genetics
- Vol. 2 (2), e10043
- https://doi.org/10.1002/ggn2.10043
Abstract
Stuttering is a childhood-onset fluency disorder, intertwined with physiological, emotional, and anxiety factors. The present study was designed to evaluate the recurrence of the reported mutations among three previously implicated (GNPTAB, GNPTG, NAGPA) candidate genes, in persons with stuttering from south India. Mutation screening was performed among 64 probands on 12 specific exons, by Sanger sequencing. A total of 12 variants were identified, which included five nonsynonymous, five synonymous, and two noncoding variants. Three unrelated probands harbored heterozygous missense variants at conserved coding positions across species (p. Glu1200Lys in GNPTAB, p. Ile268Leu in GNPTG and p. Arg44Pro in NAGPA). Of these, only one variant (p. Glu1200Lys in GNPTAB) cosegregated with the affected status while p. Ile268Leu in GNPTG gene was found to be a rare de novo variant. Although this study identified some previously reported variants that have been claimed to have a role in stuttering, we confirmed only one of these to be a likely causal de novo variant (p.Ile268Leu) in the GNPTG gene at an allele frequency of 0.8% (1/128) in the families with stuttering.This publication has 39 references indexed in Scilit:
- MAFFT Multiple Sequence Alignment Software Version 7: Improvements in Performance and UsabilityMolecular Biology and Evolution, 2013
- Primer-BLAST: A tool to design target-specific primers for polymerase chain reactionBMC Bioinformatics, 2012
- Studies in a consanguineous family reveal a novel locus for stuttering on chromosome 16qHuman Genetics, 2011
- Characterization of a mutation commonly associated with persistent stuttering: evidence for a founder mutationJournal of Human Genetics, 2010
- Identification of an autosomal recessive stuttering locus on chromosome 3q13.2–3q13.33Human Genetics, 2010
- Mutations in the Lysosomal Enzyme–Targeting Pathway and Persistent StutteringThe New England Journal of Medicine, 2010
- NCBI BLAST: a better web interfaceNucleic Acids Research, 2008
- IDT SciTools: a suite for analysis and design of nucleic acid oligomersNucleic Acids Research, 2008
- Genetic studies of stuttering in a founder populationJournal of Fluency Disorders, 2007
- The Human Genome Browser at UCSCGenome Research, 2002