Examination of Potential Overlap in Autism and Language Loci on Chromosomes 2, 7, and 13 in Two Independent Samples Ascertained for Specific Language ImpairmentBartlett C.W.a · Flax J.F.a · Logue M.W.b · Smith B.J.d · Vieland V.J.b,c · Tallal P.a · Brzustowicz L.M.a,d,e
aCenter for Molecular and Behavioral Neuroscience, Rutgers University, Newark, N.J.; bProgram in Public Health Genetics, Coll Public Health, and cDepartment of Psychiatry, College of Medicine, University of Iowa, Iowa City, Iowa; dDepartment of Genetics, Rutgers University, and eDepartment of Psychiatry, University of Medicine and Dentistry of New Jersey, New Jersey Medical School, Newark, N.J., USA
Specific language impairment is a neurodevelopmental disorder characterized by impairments essentially restricted to the domain of language and language learning skills. This contrasts with autism, which is a pervasive developmental disorder defined by multiple impairments in language, social reciprocity, narrow interests and/or repetitive behaviors. Genetic linkage studies and family data suggest that the two disorders may have genetic components in common. Two samples, from Canada and the US, selected for specific language impairment were genotyped at loci where such common genes are likely to reside. Significant evidence for linkage was previously observed at chromosome 13q21 in our Canadian sample (HLOD 3.56) and was confirmed in our US sample (HLOD 2.61). Using the posterior probability of linkage (PPL) to combine evidence for linkage across the two samples yielded a PPL over 92%. Two additional loci on chromosome 2 and 7 showed weak evidence for linkage. However, a marker in the cystic fibrosis transmembrane conductance regulator (7q31) showed evidence for association to SLI, confirming results from another group (O’Brien et al. 2003). Our results indicate that using samples selected for components of the autism phenotype may be a useful adjunct to autism genetics.
© 2004 S. Karger AG, Basel
Received: June 10, 2003
Accepted after revision: August 25, 2003
Number of Print Pages : 11
Number of Figures : 0, Number of Tables : 4, Number of References : 76
Human Heredity (International Journal of Human and Medical Genetics)
Founded 1950 as Acta Genetica et Statistica Medica by Gunnar Dahlberg; Continued by M. Hauge (1965–1983)
Vol. 57, No. 1, Year 2004 (Cover Date: Released April 2004)
Journal Editor: J. Ott, New York, N.Y.
ISSN: 0001–5652 (print), 1423–0062 (Online)
For additional information: http://www.karger.ch/journals/hhe