Speech/Language Disorders Database

Hello Guest! Login | Register

Gene / phenotype associations for GNPTAB

  • Click column headers to sort. Click to expand any row to see more details about the particular assertion of an association between variants of GNPTAB and a particular phenotypic variable.
  • Click the Pubmed IDs in the last column to link out to the primary research article. Click the links in the last column to download the full Genotype-Phenotype record as JSON or XML formatted text.
Entrez Id Symbol Location Disorder Brief Phenotype Reference Year Download
79158 GNPTAB 12q23.2 Stuttering Susceptibility to nonsyndromic stuttering Kang et al 2010 JSON | XML

Additional Phenotype Details: Stuttering may be diagnosed using the Stuttering Severity Instrument (SSI). In some studies, subjects are asked to read a standardized text aloud and to engage in free speech for a certain amount of time, and the percentage of dysfluencies (out of all words, and/or out of all syllables) determines the diagnosis.


Riley, G. 2009. SSI-4: Stuttering severity instrument--Fourth edition; examiner's manual. Pro-Ed, Austin, TX (2009).

Basic Study Type:  - Linkage analysis - Candidate gene sequencing

Study Cohort: 

(1) Members of Pakistani family PKST72
(2) 121 other Pakistani subjects with stuttering
(3) 270 affected subjects from the US and England, of a variety of ethnicities (see below)
(4) 96 Pakistani control subjects
(5) 276 white North American control subjects

"We analyzed families that had participated in previous linkage studies [12] and focused on the largest family, designated PKST72 (Fig. 1). In addition, we studied unrelated cases of stuttering in 46 Pakistani subjects (one from each of the previously studied families [12]) and 77 additional unrelated persons with stuttering from Pakistan, as well as 270 affected, unrelated persons from the United States and England. This last group was enrolled through public appeal."

"The ancestry of the Pakistani and North American–British participants was determined by self-report (see the Supplementary Appendix); all Pakistani participants were Asian in origin, and the affected North American–British participants described themselves as white (206 participants), black (25), Asian (16), Hispanic (13), Native American (1), and other or unknown (9). The mean (±SD) age in our sample of affected, unrelated subjects was 30.7±12.1 years (for the age distribution, see Fig. 2 in the Supplementary Appendix). The Pakistani control subjects consisted of 96 age-matched and sex-matched persons with normal speech from the same region of Pakistan. The control subjects consisted of 276 well-characterized, neurologically normal North American whites who were initially ascertained and evaluated as control subjects in a large study of Parkinson’s disease (Coriell Institute for Medical Research)."

Genotyping Methods: 
"Gene identification and bioinformatic analyses were based on the UCSC Genome Browser, March 2006 assembly. Comparative genomic hybridization [17] was performed with the use of a custom CGH 385K Array (NimbleGen), which was designed to query 10 megabase pairs centered on base pair 99,197,889 (i.e., base pair 94,220,151 to base pair 104,175,626) of the chromosome 12 sequence in seven affected and three unaffected Pakistani subjects. DNA sequencing was performed on genomic DNA that was purified with the use of standard methods. Genetic variants identified by sequencing were considered for further analysis if they met the following criteria: they had not previously been described as a common single-nucleotide polymorphism in the worldwide population (as indicated by an rs number); they altered a known functional protein motif or resulted in an amino acid insertion or deletion; they altered an amino acid that is perfectly conserved in mammals; and they produced a prominent physical alteration, such as a change in charge or polarity, in the amino acid.

"Protein-sequence alignments were performed with the use of MultAlin 5.4.1.[18] Clinical evaluations included a medical history interview and physical examination, a limited skeletal survey, an echocardiographic examination, evaluations of urine for excreted oligosaccharides and of blood for lysosomal hexosaminidase activity, and a dilated-pupil ophthalmologic examination."

Analysis Methods: 
Nonparametric and two-point linkage analyses.

Other Details: 
Inclusion criteria:

"Young children, in whom recovery from stuttering is common, were excluded from the study; also excluded were subjects who reported neurologic or psychiatric symptoms."

Diagnostic criteria:

"Age of 8 years or older; stuttering duration of 6 months or longer; evidence of a family history of stuttering; and speech characterized by more than 4% stuttering dysfluencies, as measured with the Stuttering Severity Instrument, 3rd edition (SSI-3) [15], or a well-characterized standard reading passage [16]."

Associated Markers:


Post a new comment

Sign In or Register to post a comment.