Evaluation of recurrent GNPTAB, GNPTG, and NAGPA variants associated with stuttering

Chandru, Jayasankaran; Jeffrey, Justin Margret; Krishnamoorthy, Mathuravalli; Srisailapathy, C. R. Srikumari

doi:10.1002/ggn2.10043

Cited by 3 publications

(5 citation statements)

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“…Congenital factors play a role in some people who stutter. In past studies, researchers estimated that alteration of three genes GNPTAB, GNPTG, and NAGPA, were present in 9% of those who have a family history of stuttering (Gunasekaran et al, 2021). It is not yet clearly known whether the differences in brain structures of stutterers is the consequence or the cause, but recent research on older children confirms structural differences that don't appear in younger children, thereby giving strength to the argument that at least some of the differences are not a consequence of stuttering (Watkins et al, 2008).…”

Section: Methodsmentioning

confidence: 99%

The Difference between Monolingual and Bilingual Stutterers: A Systematic Review

Qi¹

2023

IJPS

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The article is a comprehensive review regarding group differences of brain structures, cognitive process, and emotional responses between monolingual people who stutter (MWS) and bilingual people who stutter (BWS). Until now, researchers have been examining MWS and BWS separately, yet the compare between these two groups of people is lacking. In this work, the overview of MWS and BWS are introduced, different types and traits of stutter between MWS and BWS are compared, and the differences between brain structure, executive force, motor control, and cognitive reserve are investigated and synthesized based on previous studies. Both MWS and BWS have executive deficits in speech motor control, while BWS seem to be classified as having greater potential in language inhibitory and switching, thus transferring to general executive control. The conclusions are that BWS generally experience increased neural connectivity due to larger volume of grey and white matter than MWS, and thus gaining cognitive control abilities. Further research is warranted for the bilingual advantage and the exact etiology for stuttering.

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Section: Methodsmentioning

confidence: 99%

The Difference between Monolingual and Bilingual Stutterers: A Systematic Review

Qi¹

2023

IJPS

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“…Вплив раси, етнічної приналежності, культури, двомовності та соціальноекономічного статусу на поширеність заїкання залишається невизначеним. (DSM-5, 2013: 46-47;Gunasekaran et al, 2021).…”

Section: ключові словаunclassified

“…Воно здійснюється за допомогою технології дослідження генетичного зчеплення (Bailey-Wilson & Wilson, 2011). Дослідження генетичного зчеплення заїкання показали, що гени, причетні до нього достовірно розташовані в 7-и регіонах 6-и хромосом: 2p, 3p, 3q, 12q, 14q, 15q та 16q (Gunasekaran et al, 2021). Навіть якщо в кожному виявленому регіоні буде ідентифіковано хоча б по одному генові, причетному до заїкання, то воно буде визначатися ще 7-ма генами.…”

Section: ключові словаunclassified

“…Точна локалізація гена в хромосомі, його молекулярна структура, мутації та їх позиції в структурі гена визначаються за допомогою технології дослідження загальногеномних асоціацій (genome-wide association studies, GWAS) (Uffelmann et al, 2021). На цей час ідентифіковано 4 гена, причетних до заїкання: GNPTAB, GNPTG, NAGPA та AP4E1 (Frigerio-Domingues & Drayna, 2017; Gunasekaran et al, 2021). Подаємо опис цих генів щодо заїкання.…”

Section: ключові словаunclassified

“…Варто зазначити, що різні особи, вражені заїканням, можуть нести різні набори мутантних варіантів, наприклад, p. Glu1200Lys та p. Thr644Thr у гені GNPTAB і p. Asn495Asn у гені NAGPA, або p. Thr644Thr у гені GNPTAB, р. Ile268Leu у гені GNPTG і p. Asn495Asn у гені NAGPA, або лише p. Asn495Asn у гені NAGPA тощо (Gunasekaran et al, 2021).…”

Section: ключові словаunclassified

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Genetics of Stuttering

Pomohaibo¹,

Berezan²,

Petrushov³

2023

ПІO

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Stuttering is characterized by frequent repetition or lengthening of sounds, syllables or words, or by frequent hesitations or pauses that disrupt the rhythmic flow of speech. It may be accompanied by movements of the face and/or other parts of the body that coincide in time with the repetitions, prolongations, or pauses in speech flow. The prevalence of stuttering ranges from 0.3% to 5.6%. Usually for 80%-90% of patients stuttering starts gradually when children are 2-7 years old. Longitudinal research shows that 65% -85% of stuttering children recover. The rate of heritability of stuttering is about 70%, indicating that almost one third of the disorder is caused by environmental factors. Currently four stuttering genes have been identified that are involved in intracellular metabolism: GNPTAB, GNPTG, NAGPA and AP4E1. The disorder is caused by single nucleotide synonymous or missense mutations in the exons of these genes. Different people affected by stuttering can carry different sets of mutant variants ‒ from one to several. The effect of the identified genes on neurobiological processes in the human brain and on the development of stuttering remains unknown. So far it has only been discovered that stuttering occurs due to lysosomal dysfunction, which adversely affects the organization of neurofilaments of speech neural networks. The contribution of identified genes to stuttering cumulatively is only 20%. There were identified also 9 candidate stuttering genes (FADS2, PLXNA4, CTNNA3, ARNT2, EYA2, PCSK5, SLC24A3, FMN1 and ADARB2) and 7 regions of 6 chromosomes (2p, 3p, 3q, 12q, 14q, 15q and 16q) reliably linked to this disorder. Further successful genetic studies of stuttering are needed to improve our understanding and treatment of this long-enigmatic disorder.

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Determination of regulatory motifs and pathogenicity of intronic variants of GNPTAB, GNPTG, and NAGPA genes in individuals with stuttering

2022

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Background Stuttering is a fluency disorder typically characterized by part-word repetitions, voiced or voiceless sound prolongations, and broken words. Evidence suggests that 1% of the world population stutters. Compelling evidence from past research suggests that stuttering is caused by non-synonymous coding sites. This study evaluates the intronic regions of GNPTAB, GNPTG, and NAGPA genes for possible pathogenicity of intronic variants from unrelated non-syndromic stutterers in a cohort of the south Indian population. Results High-throughput sequencing revealed 41 intronic variants. Computational tool Reg-SNP Intron identified three intronic variants rs11110995 A>G, rs11830792 A>G, and rs1001171 T>A of having a plausible pathogenic impact which was identified in 37.9%, 26.5%, and 59.4% of stutterers, respectively. RegulomeDB identified the regulatory motifs and susceptible loci of the intronic variants. Conclusions This study imparts the identification, association, and interpretation of pathogenicity and regulatory significance of the intronic variants in the context of the noncoding DNA elements. Future work is warranted to better understand the role of the intronic variants in a larger cohort of stutterers, and a cohort of fluent controls would be valuable.

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Evaluation of recurrent GNPTAB, GNPTG, and NAGPA variants associated with stuttering

Cited by 3 publications

References 41 publications

The Difference between Monolingual and Bilingual Stutterers: A Systematic Review

The Difference between Monolingual and Bilingual Stutterers: A Systematic Review

Genetics of Stuttering

Determination of regulatory motifs and pathogenicity of intronic variants of GNPTAB, GNPTG, and NAGPA genes in individuals with stuttering

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