Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.

ABSTRACT:

Background

Stuttering is a disorder of unknown cause characterized by repetitions, prolongations, and interruptions in the flow of speech. Genetic factors have been implicated in this disorder, and previous studies of stuttering have identified linkage to markers on chromosome 12.

Methods

We analyzed the chromosome 12q23.3 genomic region in consanguineous Pakistani families, some members of which had nonsyndromic stuttering and in unrelated case and control subjects from Pakistan and North America.

Results

We identified a missense mutation in the N-acetylglucosamine-1-phosphate transferase gene (GNPTAB), which encodes the alpha and beta catalytic subunits of GlcNAc-phosphotransferase (GNPT [EC 2.7.8.15]), that was associated with stuttering in a large, consanguineous

SUBMITTER: Kang C 

PROVIDER: S-EPMC2936507 | biostudies-literature | 2010 Feb

REPOSITORIES: biostudies-literature