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Genome-Wide Scan for Autism Susceptibility Genes

1999; Oxford University Press; Volume: 8; Issue: 5 Linguagem: Inglês

10.1093/hmg/8.5.805

1460-2083

Anne Philippe, María Martínez, M Guilloud-Bataille, Christopher Gillberg, Maria Råstam, Eili Sponheim, Mary Coleman, Michele Zappella, H.N. Aschauer, Lionel Van Maldergem, Christiane Penet, J Feingold, Alexis Brice, Marion Leboyer, L van Malldergerme,

Genetics and Neurodevelopmental Disorders

Family and twin studies have suggested a genetic component in autism. We performed a genome-wide screen with 264 microsatellites markers in 51 multiplex families, using non-parametric linkage methods. Families were recruited by a collaborative group including clinicians from Sweden, France, Norway, the USA, Italy, Austria and Belgium. Using two-point and multipoint affected sib-pair analyses, 11 regions gave nominal P -values of 0.05 or lower. Four of these regions overlapped with regions on chromosomes 2q, 7q, 16p and 19p identified by the first genome-wide scan of autism performed by the International Molecular Genetic Study of Autism Consortium. Another of our potential susceptibility regions overlapped with the 15q11-q13 region identified in previous candidate gene studies. Our study revealed six additional regions on chromosomes 4q, 5p, 6q, 10q, 18q and Xp. We found that the most significant multipoint linkage was close to marker D6S283 (maximum lod score = 2.23, P = 0.0013).