Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q

Authors
Palferman, S Matthews, N Turner, H Moore, J Hervas, A Aubin, A Wallace, S Michelotti, J Wainhouse, C Paul, A Thompson, E Murin, M Gupta, R Garner, C Pickles, A Rutter, M Bailey, A Lamb, JA Marlow, A Scudder, P Barnby, G Monaco, AP Baird, G Cox, A Docherty, Z Warburton, P Green, EP Abbs, SJ Le Couteur, A McConachie, HR Berney, T Kelly, TP De Vries, PJ Bolton, P Green, J Gilchrist, A Whittacker, J Bolton, B Packer, R Maestrini, E Van Engeland, H De Jonge, MV Kemner, C Klauck, SM Beyer, KS Epp, S Poustka, A Benner, A Poustka, F Ruhl, D Schmotzer, G Bolte, S Feineis-Matthews, S Fombonne, E Roge, B Fremolle-Kruck, J Pienkowski, C Tauber, MT Pedersen, L Brondum-Nielsen, K Eriksen, G Haracopos, D Cotterill, RMJ Tsiantis, J Papanikolaou, K Lord, C Corsello, C Guter, S Leventhal, B Cook, E Smalley, S Bailey, J Liu, A Dedricks, M Chrzanowski, L Levitt, J Pauls, D Volkmar, F Weeks, DE
Citation
S. Palferman et al., Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q, HUM MOL GEN, 10(9), 2001, pp. 973-982
Citations number
52
Categorie Soggetti
Molecular Biology & Genetics
Journal title
HUMAN MOLECULAR GENETICS
ISSN journal
09646906 → ACNP
Volume
10
Issue
9
Year of publication
2001
Pages
973 - 982
Database
ISI
SICI code
0964-6906(20010415)10:9<973:FCOTAS>2.0.ZU;2-N
Abstract
Autism is a neurodevelopmental disorder that usually arises on the basis of a complex genetic predisposition. The most significant susceptibility regi on in the first whole genome screen of multiplex families was on chromosome 7q, although this linkage was evident only in UK IMGSAC families. Subseque ntly all other genome screens of non-UK families have found some evidence o f increased allele sharing in an overlapping 40 cM region of 7q. To further characterize this susceptibility locus, linkage analysis has now been comp leted on 170 multiplex IMGSAC families. Using a 5 cM marker grid, analysis of 125 sib pairs meeting stringent inclusion criteria resulted in a multipo int maximum LOD score (MLS) of 2.15 at F7S477, whereas analysis of all 153 sib pairs generated an MLS of 3.37. The 71 non-UK sib pairs now contribute to this linkage. Linkage disequilibrium mapping identified two regions of a ssociation-one lying under the peak of linkage, the other some 27 cM distal . These results are supported in part by findings in independent German and American singleton families.