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Article

Genetic analyses of a large consanguineous south Indian family reveal novel variants in NAGPA and four hitherto unreported genes in developmental stuttering.

Annals of human genetics - 1 Jan 2025

Nandhini Devi G, Yadav Navneesh, Jayashankaran Chandru, Margret Jeffrey Justin, Krishnamoorthy Mathuravalli, Lakshmi A Sorna, Sundaram Chandralekha Meenakshi, Karthikeyan N P, Thelma B K, Srisailapathy C R Srikumari

Abstract excerpt

BACKGROUND: Developmental stuttering, a multifactorial speech disorder with remarkable rate of spontaneous recovery pose challenges for gene discoveries. Exonic variants in GNPTAB, GNPTG, and NAGPA involved in lysosomal pathway and AP4E1, IFNAR1, and ARMC3-signaling genes reported till date explain only ∼2.1% - 3.7% of persistent stuttering cases. AIM: We aimed to identify additional genetic determinants of...

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Identifiers

PMID: 39382170
DOI: 10.1111/ahg.12579

Genes

NAGPA
ATP13A2
GNPTAB
GNPTG
RIMS2
AP4E1
IFNAR1
IGF2R
XYLT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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