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

Lookup NU author(s): Professor Ann Le Couteur, Emerita Professor Helen McConachie, Dr Thomas Berney


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Autism is a neurodevelopmental disorder that usually arises on the basis of a complex genetic predisposition. The most significant susceptibility region in the first whole genome screen of multiplex families was on chromosome 7q, although this linkage was evident only in UK IMGSAC families. Subsequently all other genome screens of non-UK families have found some evidence of increased allele sharing in an overlapping 40 cM region of 7q. To further characterize this susceptibility locus, linkage analysis has now been completed on 170 multiplex IMGSAC families. Using a 5 cM marker grid, analysis of 125 sib pairs meeting stringent inclusion criteria resulted in a multipoint 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 association-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.

Publication metadata

Author(s): Le Couteur A; Berney T; McConachie HR; 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; 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; Intl Molecular Genetic Study Autis

Publication type: Article

Publication status: Published

Journal: Human Molecular Genetics

Year: 2001

Volume: 10

Issue: 9

Pages: 973-982

ISSN (print): 0964-6906

ISSN (electronic): 1460-2083

Publisher: Oxford University Press


DOI: 10.1093/hmg/10.9.973


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