Oliver Sacks, “Seeing Voices: A Journey into the World of the Deaf”, 1989 was the topic of an earlier blog post.
Here I present: “Mutations in Lysosomal Enzymes: Targeting Pathway and Persistent Stuttering”, 2010. The brain “corpus callosum” (shown ABOVE) is the neurological location of “stuttering”.
INTRODUCTION.
“Dysphemia” is the clinical term of the speech disorder of stammer or stutter. Developmentally “dysphemia” co-occurrs” with “dyslexia” (readless) at 50% comorbidity. Clinically, termed “familial, persistent stuttering”.
Here I presented: “Mutations in Lysosomal Enzymes: Targeting Pathway and Persistent Stuttering”, 2010 in the New England Journal of Medicine.
COMMENTS.
“People who stutter repeat or prolong sounds, syllables, or words, disrupting the normal speech flow.”
Dysphemia affects about one (1) percent of the global, world population; that is eighty million (80,000,000) people have familial, persistent stuttering.
Stutter (STUT) is the approved gene symbol for “dysphemia”, and seven (7) genes are listed below. The genes: GNPTAB, GNPTG, and NAGPA were the topic of the 2010 publication.
| Symbol | # OMIM | Cytogenetic |
| STUT1 | 184450 | 15q21.2 |
| STUT2 | 609261 | 12q24.1 |
| STUT3 | 614655 | 3q13.2-3q13.33 |
| STUT4 | 614668 | 16q12.1-16q23.1 |
| GNPTAB | 607840 | 12q23.2 |
| GNPTG | 607838 | 16p13.3 |
| NAGPA | 607985 | 16p13.3 |
