Genetic Studies of Stuttering in a Large West African Family

Abstract

A large family of West African origin displaying persistent developmental stuttering was ascertained. This family contains 106 individuals, 45 of whom display the phenotype. A genome wide scan was conducted using 366 microsatellite markers, with additional markers in regions of interest. Parametric linkage analyses were conducted under several different models of inheritance patterns. The highest two point LOD scores were obtained under a fully penetrant model on chromosome 1p31 at marker D1S1588 (LOD = 2.97, ? = 0.062), and chromosome 20 at marker D20S873 (LOD = 2.97, ? = 0.15). Multipoint LOD scores provided significant evidence for linkage on chromosome 1 (LOD=4.39) with markers D1S2774 and D1S3471 (114 cM and 117 cM) respectively and suggestive evidence of linkage on chromosome 20 (LOD=2.22) with markers D20S482 and D20S851 (12 cM and 25 cM, respectively). These data provide suggestive evidence for an association of PDS to multiple chromosomal locations.