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 |
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KEY |
neu |
|
CLA |
unknown, basic |
|
LOC |
07 q32-34 |
|
MIM |
MIM: 209850 |
