Results of a Genome-Wide Linkage Scan for Stuttering

Yin Yao Shugart, Jennifer Mundorff, James Kilshaw, Kimberly Doheny, Betty Doan, Jacqueline Wanyee, Eric D. Green, Dennis Drayna

Research output: Contribution to journalArticlepeer-review

46 Scopus citations


We performed a linkage study of stuttering using 392 markers distributed across the genome in a series of 68 families identified in the general outbred population of North America and Europe. Standardized diagnosis was performed using recorded samples of both conversation and reading, in which stuttering dysfluencies were scored as percentage of dysfluent words and syllables. Analysis was first performed using nonparametric methods implemented in GENE-HUNTER, where we obtained maximum statistical support for markers of chromosome 18, with a maximum NPL (Sall) of 1.51 at D18S976. The single largest pedigree within our sample (pedigree 0006) alone gave an NPL of 4.72 at D18S976. For fine mapping, we analyzed 18 markers on chromosome 18 across all families using ALLEGRO. Overall NPL (Srobdom) scores >5 were obtained with markers on 18p, and Zlr, scores ≥2.5 on 18p and proximal 18q. Furthermore, pedigree 0006 alone gave an NPL (S robdom) of 5.35. Overall our results suggest chromosome 18 may harbor a predisposing locus for this disorder, and additional genes may exist.

Original languageEnglish (US)
Pages (from-to)133-135
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume124 A
Issue number2
StatePublished - Jan 15 2004


  • Linkage
  • Non-parametric analysis
  • Speech disorder
  • Stuttering

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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