title: Results of a genome-wide linkage scan for stuttering.
abstract: 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 non-parametric methods implemented in GENEHUNTER, 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 Z(lr) scores >/=2.5 on 18p and proximal 18q. Furthermore, pedigree 0006 alone gave an NPL (Srobdom) of 5.35. Overall our results suggest chromosome 18 may harbor a predisposing locus for this disorder, and additional genes may exist.
authors.affiliation: Center for Inherited Disease Research, Johns Hopkins University Bayview Research Campus, Baltimore, Maryland, USA.
authors.forename: Yin Yao
authors.initials: YY
authors.lastname: Shugart
authors.forename: Jennifer
authors.initials: J
authors.lastname: Mundorff
authors.forename: James
authors.initials: J
authors.lastname: Kilshaw
authors.forename: Kimberly
authors.initials: K
authors.lastname: Doheny
authors.forename: Betty
authors.initials: B
authors.lastname: Doan
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Wanyee
authors.forename: Eric D
authors.initials: ED
authors.lastname: Green
authors.forename: Dennis
authors.initials: D
authors.lastname: Drayna
mesh_terms: D002874:Chromosome Mapping; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D005060:Europe; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D015894:Genome, Human; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D009656:North America; D013342:Stuttering / Q000235:genetics* / Q000473:pathology