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Recurrence of reported GNPTAB, GNPTG and NAGPA gene variations associated with stuttering - an evaluation
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  • SRIKUMARI CR,
  • NANDHINI G,
  • Jeffrey JM,
  • MATHURAVALLI KRISHNAMOORTHY
SRIKUMARI CR
University of Madras
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NANDHINI G
University of Madras
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Jeffrey JM
University of Madras
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MATHURAVALLI KRISHNAMOORTHY
University of Madras
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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 (PWS) from south India. Mutation screening was performed on 64 probands on 12 specific exons, by Sanger sequencing. A total of 12 variants were identified, which included five nonsynonymous missense, five synonymous and two non coding variants. Only three unrelated probands, harbored heterozygous likely pathogenic missense variants (c.3598G>A in GNPTAB, c.802A>C in GNPTG and c.131G>C in NAGPA) resulting in an overall frequency of 4.7% and an allele frequency of 2.3% (3/128*100). Among the three likely pathogenic variants only two co-segregated (c.3598G>A in GNPTAB - STU 29 and c.802A>C in GNPTG - STU 63) with the affected status reducing the likely pathogenic allele frequency to 1.6% (2/128*100). The recurrence of pathogenic variants in our study corroborate the causative role of these genes in stuttering but still remains unknown as to how the speech dysfluency occurs even in its heterozygous condition. Keywords: Stuttering, candidate genes, GNPTAB, GNPTG, NAGPA

Peer review status:ACCEPTED

07 Oct 2020Submitted to Advanced Genetics
07 Oct 2020Submission Checks Completed
07 Oct 2020Assigned to Editor
12 Oct 2020Reviewer(s) Assigned
03 Nov 2020Review(s) Completed, Editorial Evaluation Pending
04 Nov 2020Editorial Decision: Revise Major
13 Jan 20211st Revision Received
14 Jan 2021Submission Checks Completed
14 Jan 2021Assigned to Editor
14 Jan 2021Review(s) Completed, Editorial Evaluation Pending
21 Jan 2021Reviewer(s) Assigned
10 Feb 2021Editorial Decision: Revise Major
21 Apr 20212nd Revision Received
21 Apr 2021Submission Checks Completed
21 Apr 2021Assigned to Editor
21 Apr 2021Review(s) Completed, Editorial Evaluation Pending
21 Apr 2021Editorial Decision: Revise Minor
02 May 20213rd Revision Received
03 May 2021Assigned to Editor
03 May 2021Submission Checks Completed
03 May 2021Review(s) Completed, Editorial Evaluation Pending
04 May 2021Editorial Decision: Accept