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Article

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.

American journal of human genetics - 5 Nov 2015

Raza M Hashim, Mattera Rafael, Morell Robert, Sainz Eduardo, Rahn Rachel, Gutierrez Joanne, Paris Emily, Root Jessica, Solomon Beth, Brewer Carmen, Basra M Asim Raza, Khan Shaheen, Riazuddin Sheikh, Braun Allen, Bonifacino Juan S, Drayna Dennis

Abstract excerpt

Stuttering is a common, highly heritable neurodevelopmental disorder characterized by deficits in the volitional control of speech. Whole-exome sequencing identified two heterozygous AP4E1 coding variants, c.1549G>A (p.Val517Ile) and c.2401G>A (p.Glu801Lys), that co-segregate with persistent developmental stuttering in a large Cameroonian family, and we observed the same two variants in unrelated Cameroonians...

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Identifiers

PMID: 26544806
DOI: 10.1016/j.ajhg.2015.10.007
PMCID: PMC4667129

Genes

NAGPA

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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