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May 23, 2010

Genetic Cause for Stuttering?

It appears that at least in some individuals, their stuttering may be caused by a genetic mutation, specifically a missense mutation in the N-acetylglucosamine-1-phosphate transferase gene (GNPTAB), which encodes the alpha and beta catalytic subunits of GlcNAc-phosphotransferase protein (part of the lysosomal enzyme–targeting pathway).

Other genetic mutations causing stuttering was found in the GNPTAB, GNPTG, and NAGPA genes. These genes encode enzymes that generate the mannose-6-phosphate signal, which directs a diverse group of hydrolases to the lysosome

This research was published in the February 2010 volume of New England Journal of Medicine.

Read the research here.
Fauquier blog
Fauquier ENT

Dr. Christopher Chang is a private practice otolaryngology, head & neck surgeon specializing in the treatment of problems related to the ear, nose, and throat. Located in Warrenton, VA about 45 minutes west of Washington DC, he also provides inhalant allergy testing/treatment, hearing tests, and dispenses hearing aids. Google+ Christopher Chang, MD Bio

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