Infantile autism--fragile X: molecular findings support genetic heterogeneity.
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.
Malmgren
H
H
Department of Medical Genetics, Uppsala University, Sweden.
Gustavson
K H
KH
Wahlström
J
J
Arpi-Henriksson
I
I
Bensch
J
J
Pettersson
U
U
Dahl
N
N
D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000150:complications / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D005260:Female; D005600:Fragile X Syndrome / Q000150:complications*; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008745:Methylation; D008875:Middle Aged; D010375:Pedigree; D014960:X Chromosome
D005819:Genetic Markers; D004247:DNA