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

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 with persistent stuttering. We found 23 other rare variants, including predicted loss-of-function variants, in AP4E1 in unrelated stuttering individuals in Cameroon, Pakistan, and North America.

Source: The American Journal of Human Genetics - November 5, 2015 Category: Genetics & Stem Cells Authors: M. Hashim Raza, Rafael Mattera, Robert Morell, Eduardo Sainz, Rachel Rahn, Joanne Gutierrez, Emily Paris, Jessica Root, Beth Solomon, Carmen Brewer, M. Asim Raza Basra, Shaheen Khan, Sheikh Riazuddin, Allen Braun, Juan S. Bonifacino, Dennis Drayna Tags: Article Source Type: research