title: Compound heterozygosity at the FMR1 gene.
abstract: Individuals affected with Fragile X syndrome are usually characterized at the DNA level by the presence of at least 200 CGG repeats in the 5' untranslated region of the FMR1 gene; this number of repeats is defined as a full mutation. Repeats that number 50-200 usually define those with premutations and are termed unaffected carriers. We report here a compound heterozygous female who carried CGG repeats in the FMR1 gene that fall within the premutation and full mutation ranges. The former appears to have been inherited from the father, whereas the latter is an expansion of the premutation carried by the proband's mother. Therefore, the offspring of the proband will carry a significant risk of being affected with Fragile X syndrome, and the paternal uncle and any cousins should be counselled for being at risk for this syndrome.
authors.affiliation: School of Biological Sciences, University of Auckland, and Auckland Hospital, New Zealand.
authors.forename: M R
authors.initials: MR
authors.lastname: Hegde
authors.forename: M
authors.initials: M
authors.lastname: Fawkner
authors.forename: B
authors.initials: B
authors.lastname: Chong
authors.forename: J
authors.initials: J
authors.lastname: McGaughran
authors.forename: D
authors.initials: D
authors.lastname: Gilbert
authors.forename: D R
authors.initials: DR
authors.lastname: Love
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics*; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D016133:Polymerase Chain Reaction; D016601:RNA-Binding Proteins; D018911:Trinucleotide Repeats; D014960:X Chromosome / Q000235:genetics*
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human