Send to

Choose Destination
See comment in PubMed Commons below
J Neurodev Disord. 2011 Dec;3(4):374-80. doi: 10.1007/s11689-011-9090-7. Epub 2011 Aug 18.

Genetic approaches to understanding the causes of stuttering.

Author information

National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Room 2B-46, Rockville, MD, 20850, USA,


Stuttering is a common but poorly understood speech disorder. Evidence accumulated over the past several decades has indicated that genetic factors are involved, and genetic linkage studies have begun to identify specific chromosomal loci at which causative genes are likely to reside. A detailed investigation of one such region on chromosome 12 has identified mutations in the GNPTAB gene that are associated with stuttering in large families and in the general population. Subsequent studies identified mutations in the functionally related GNPTG and NAGPA genes. Mutations in these genes disrupt the lysosomal targeting pathway that generates the Mannose 6-phosphate signal, which directs a diverse group of enzymes to their target location in the lysosome of the cell. While mutations in these three genes can be identified in less than 10% of cases of familial stuttering, this knowledge allows a variety of new studies that can help identify the neuropathology that underlies this disorder.

PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for PubMed Central
    Loading ...
    Support Center