Results of a genome-wide linkage scan for stuttering.
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.
Shugart
Yin Yao
YY
Center for Inherited Disease Research, Johns Hopkins University Bayview Research Campus, Baltimore, Maryland, USA.
Mundorff
Jennifer
J
Kilshaw
James
J
Doheny
Kimberly
K
Doan
Betty
B
Wanyee
Jacqueline
J
Green
Eric D
ED
Drayna
Dennis
D
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