Malmgren H, Gustavson K H, Wahlström J, Arpi-Henriksson I, Bensch J, Pettersson U, Dahl N
Department of Medical Genetics, Uppsala University, Sweden.
Am J Med Genet. 1992 Dec 1;44(6):830-3. doi: 10.1002/ajmg.1320440624.
Twenty-two members of 18 families with autism have been examined for the presence of mutations and abnormal methylation in the FMR-1 region at Xq27.3. All patients fulfilled diagnostic criteria of infantile autism. A characteristic pattern of insertion and methylation were detected after Southern blot analysis in 7 autistic individuals expressing the fragile site at Xq27.3. Normal DNA patterns were observed in 15 autistic boys cytogenetically negative for the fragile site. The results indicate a lack of involvement of the FMR-1 region in infantile autists negative for fragile X expression.
