Stuttering is a common speech disorder with substantial genetic contributions. To better
understand the genetic factors involved in stuttering, we performed a genome-wide linkage
study in a newly-ascertained consanguineous stuttering family from Pakistan. A linkage scan …

Stuttering is a common speech disorder characterized by word or syllable repetitions or
prolongations, and by silent interruptions in the flow of speech known as blocks (Diagnostic and
Statistical Manual, 5th Edition, International Classification of Diseases, 11th Edition (2013). Clinical …

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 …

Stuttering is a common and sometimes severe communication disorder, of unknown primary
etiology, that exists in populations worldwide. Many types of evidence suggest a genetic
contribution to stuttering; however, the complex inheritance of this disorder has hindered …

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 …

Homozygous mutations in GNPTAB and GNPTG are classically associated with
mucolipidosis II (ML II) alpha/beta and mucolipidosis III (ML III) alpha/beta/gamma, which are
rare lysosomal storage disorders characterized by multiple pathologies. Recently, variants in …

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 …

Purpose We investigated whether outcomes of therapy for persistent developmental
stuttering differ in individuals who carry a mutation in one of the known genes associated
with stuttering compared to individuals without such mutations. Method We studied …

Stuttering is a disorder that affects the fluency of speech. It has been shown to have high
heritability and has recently been linked to mutations in the GNPTAB gene. One such
mutation, Glu1200Lys, has been repeatedly observed in unrelated families and individual …

Stuttering is a common neurodevelopmental disorder that has been associated with
mutations in genes involved in intracellular trafficking. However, the cellular mechanisms
leading to stuttering remain unknown. Engineering a mutation in N-acetylglucosamine-1 …