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- W4321054278 abstract "Stuttering is a disorder that affects the fluency of speech resulting in interruptions that are highly heritable. The present study aimed to evaluate the occurrence of the founder mutation GNPTAB c.3598G>A, p.Glu1200Lys (rs137853825) which is associated with stuttering. A total of 96 unrelated persistent stutterers from south India were included in this study. Genotyping the exon 19 of the GNPTAB gene by Sanger sequencing identified the pathogenic mutation in 5/96 (5.2 %) participants. A noncoding mutation GNPTAB c.3602+62A>G (rs1952847841) was also detected in 16/96 (16.6 %) cases. Further studies are warranted to identify the pathogenic loci of other genes of the lysosomal pathway, which would provide further insights into the genetic constitution of stuttering." @default.
- W4321054278 created "2023-02-17" @default.
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- W4321054278 date "2023-06-01" @default.
- W4321054278 modified "2023-09-27" @default.
- W4321054278 title "Report of the GNPTAB c.3598G>A, p.Glu1200Lys founder mutation associated with persistent stuttering in South Indian population" @default.
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- W4321054278 doi "https://doi.org/10.1016/j.genrep.2023.101755" @default.
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