Speech sound disorder influenced by a locus in 15q14 region.
Despite a growing body of evidence indicating that speech sound disorder (SSD) has an underlying genetic etiology, researchers have not yet identified specific genes predisposing to this condition. The speech and language deficits associated with SSD are shared with several other disorders, including dyslexia, autism, Prader-Willi Syndrome (PWS), and Angelman's Syndrome (AS), raising the possibility of gene sharing. Furthermore, we previously demonstrated that dyslexia and SSD share genetic susceptibility loci. The present study assesses the hypothesis that SSD also shares susceptibility loci with autism and PWS. To test this hypothesis, we examined linkage between SSD phenotypes and microsatellite markers on the chromosome 15q14-21 region, which has been associated with autism, PWS/AS, and dyslexia. Using SSD as the phenotype, we replicated linkage to the 15q14 region (P=0.004). Further modeling revealed that this locus influenced oral-motor function, articulation and phonological memory, and that linkage at D15S118 was potentially influenced by a parent-of-origin effect (LOD score increase from 0.97 to 2.17, P=0.0633). These results suggest shared genetic determinants in this chromosomal region for SSD, autism, and PWS/AS.
Stein
Catherine M
CM
Department of Epidemiology and Biostatistics, Case Western Reserve University, and Department of Pediatrics, Rainbow Babies & Childrens Hospital, Cleveland, OH 44106, USA.
Millard
Christopher
C
Kluge
Amy
A
Miscimarra
Lara E
LE
Cartier
Kevin C
KC
Freebairn
Lisa A
LA
Hansen
Amy J
AJ
Shriberg
Lawrence D
LD
Taylor
H Gerry
HG
Lewis
Barbara A
BA
Iyengar
Sudha K
SK
D001321:Autistic Disorder / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005260:Female; D006311:Hearing Disorders / Q000235:genetics*; D006801:Humans; D007802:Language; D007806:Language Disorders / Q000235:genetics; D008297:Male; D010700:Phonetics; D011218:Prader-Willi Syndrome / Q000235:genetics; D035781:Siblings; D013064:Speech Disorders / Q000235:genetics*
D004247:DNA