A fragile X male with a broad smear on southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene
- Duke Univ. Medical Center, Durham, NC (United States); and others
Fragile X DNA studies were carried out on all obligate carriers of a large fragile X family with 10 mentally retarded individuals. One 64-year-old carrier man with an altered FMR-1 allele was not described as being mentally retarded or as having any limitations in function. He was married, raised 8 children, and worked as an auto mechanic. On examination, he had macrocephaly and mild macroorchidism but few of the other typical physical findings of males with fragile X syndrome. His Full Scale IQ is 73, and his Vineland Adaptive Behavior Composite is 73. On the Woodcock-Johnson Psycho-Educational Battery-Revised, he achieved standard scores of 64 in Reading, 55 in Math, and 83 in Knowledge. His DNA findings showed a broad smear on Southern blot analysis of 100-500 CGG repeats and no methylation at the EagI site upstream of the FMR-1 protein coding region. His FMR-1 protein production is 12% of normal. His daughters all have large premutations, with somatic instability in the size of the CGG repeat lengths. They all have evidence of academic underachievement and 2 have physical characteristics frequently described in individuals with fragile X. 21 refs., 3 figs.
- OSTI ID:
- 478881
- Journal Information:
- American Journal of Medical Genetics, Vol. 64, Issue 2; Other Information: PBD: 9 Aug 1996
- Country of Publication:
- United States
- Language:
- English
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