caa a22 4500 445861363 CHVBK 20180317145444.0 cr unu---uuuuu 170323e20110101xx s 000 0 eng 10.1007/s00439-010-0899-z doi (NATIONALLICENCE)springer-10.1007/s00439-010-0899-z Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16 [Elektronische Daten] [Nicola Chapman, Annette Estes, Jeff Munson, Raphael Bernier, Sara Webb, Joseph Rothstein, Nancy Minshew, Geraldine Dawson, Gerard Schellenberg, Ellen Wijsman] Performance IQ (PIQ) greater than verbal IQ (VIQ) is often observed in studies of the cognitive abilities of autistic individuals. This characteristic is correlated with social and communication impairments, key parts of the autism diagnosis. We present the first genetic analyses of IQ discrepancy (PIQ-VIQ) as an autism-related phenotype. We performed genome-wide joint linkage and segregation analyses on 287 multiplex families, using a Markov chain Monte Carlo approach. Genetic data included a genome-scan of 387 micro-satellite markers in 210 families augmented with additional markers added in a subset of families. Empirical P values were calculated for five interesting regions. Linkage analysis identified five chromosomal regions with substantial regional evidence of linkage; 10p12 [P=0.001; genome-wide (gw) P=0.05], 16q23 (P=0.015; gw P=0.53), 2p21 (P=0.03, gw P=0.78), 6q25 (P=0.047, gw P=0.91) and 15q23-25 (P=0.053, gw P=0.93). The location of the chromosome 10 linkage signal coincides with a region noted in a much earlier genome-scan for autism, and the chromosome 16 signal coincides exactly with a linkage signal for non-word repetition in specific language impairment. This study provides strong evidence for a QTL influencing IQ discrepancy in families with autistic individuals on chromosome 10, and suggestive evidence for a QTL on chromosome 16. The location of the chromosome 16 signal suggests a candidate gene, CDH13, a T-cadherin expressed in the brain, which has been implicated in previous SNP studies of autism and ADHD. Springer-Verlag, 2010 Chapman Nicola Department of Medicine, University of Washington, Seattle, WA, USA aut Estes Annette Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA aut Munson Jeff Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA aut Bernier Raphael Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA aut Webb Sara Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA aut Rothstein Joseph Department of Medicine, University of Washington, Seattle, WA, USA aut Minshew Nancy Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA aut Dawson Geraldine Autism Speaks, University of North Carolina Chapel Hill, Chapel Hill, NC, USA aut Schellenberg Gerard Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, USA aut Wijsman Ellen Department of Medicine, University of Washington, Seattle, WA, USA aut Human Genetics Springer-Verlag 129/1(2011-01-01), 59-70 0340-6717 129:1<59 2011 129 439 https://doi.org/10.1007/s00439-010-0899-z text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00439-010-0899-z text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Chapman Nicola Department of Medicine, University of Washington, Seattle, WA, USA aut NATIONALLICENCE 700 1- Estes Annette Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA aut NATIONALLICENCE 700 1- Munson Jeff Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA aut NATIONALLICENCE 700 1- Bernier Raphael Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA aut NATIONALLICENCE 700 1- Webb Sara Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA aut NATIONALLICENCE 700 1- Rothstein Joseph Department of Medicine, University of Washington, Seattle, WA, USA aut NATIONALLICENCE 700 1- Minshew Nancy Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA aut NATIONALLICENCE 700 1- Dawson Geraldine Autism Speaks, University of North Carolina Chapel Hill, Chapel Hill, NC, USA aut NATIONALLICENCE 700 1- Schellenberg Gerard Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Wijsman Ellen Department of Medicine, University of Washington, Seattle, WA, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 129/1(2011-01-01), 59-70 0340-6717 129:1<59 2011 129 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer