Infantile autism—fragile X: Molecular findings support genetic heterogeneity
- 1 December 1992
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 44 (6) , 830-833
- https://doi.org/10.1002/ajmg.1320440624
Abstract
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.Keywords
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