title: Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene.
abstract: In most cases the fragile X syndrome is caused by an amplification of the CGG trinucleotide repeat in the 5' untranslated region of the FMR1 gene, in combination with the hypermethylation of the proximal CpG island. Recently, also a few cases with deletions or a mosaic of a deletion and a full mutation in the FMR1 gene, leading to the same phenotype, have been described. Here we report the molecular analysis of a patient with typical fragile X phenotype and mosaicism of the FMR1 genomic region consisting of a premutation, a full mutation of the CGG repeats, and a 215 bp deletion, diagnosed by Southern blot hybridisation and polymerase chain reaction (PCR). Sequence analysis of the deletion demonstrated that the 5' breakpoint of the deletion is located within a putative hotspot region 75-53 bp proximal to the CGG repeat.
authors.affiliation: University of Graz, Institute of Medical Biology and Human Genetics, Austria.
authors.forename: E
authors.initials: E
authors.lastname: Petek
authors.forename: P M
authors.initials: PM
authors.lastname: Kroisel
authors.forename: M
authors.initials: M
authors.lastname: Schuster
authors.forename: H
authors.initials: H
authors.lastname: Zierler
authors.forename: K
authors.initials: K
authors.lastname: Wagner
mesh_terms: D000328:Adult; D001483:Base Sequence; D015139:Blotting, Southern; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009030:Mosaicism / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D016601:RNA-Binding Proteins
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human