Gene: [07q3/AUTS1] autism susceptibility 1;

COM

An International Molecular Genetic Study of Autism Consortium (1998) conducted a 2-stage genome search for susceptibility loci in autism on 87 affected sib pairs plus 12 non-sib affected relative-pairs, from a total of 99 families. Regions on 6 chromosomes were identified that generated a multipoint maximum lod score of greater than 1. A region on 7q was the most significant, with a maximum lod score of 3.55 near markers D7S530 and D7S684 in the subset of 56 U.K. affected sib-pair families, and a maximum lod score of 2.53 in all 87 affected sib-pair families. An area on 16p near the telomere was the next most significant, with an maximum lod score of 1.97 in the U.K. families, and 1.51 in all families."

PAT

Autism is a pervasive developmental disorder with onset by 3 years of age. It is defined as a triad of social relating and communication impairments, with restricted, repetitive, or stereotyped behaviors. It is estimated to affect approximately 5 per 10,000 individuals, with a male to female ratio of 4 to 1 (Smalley-1997)."

REF

LOC,LIN,PAT "Internat-Mol-Gen-Autism-Consort IN &: Hum Mol Genet, 7, 571-578, 1998
REV,PAT,FOG "Smalley SL: AJHG, 60, 1276-1282, 1997

KEY

neu

CLA

unknown, basic

LOC

07 q32-34

MIM

MIM: 209850