Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Petek, E; Kroisel, PM; Schuster, M; Zierler, H; Wagner, K.
Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene.
Am J Med Genet. 1999; 84(3):229-232
Doi: 10.1002/(SICI)1096-8628(19990528)84:3<229::AID-AJMG13>3.3.CO;2-K
(- Case Report)
Web of Science
PubMed
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FullText_MUG
- Führende Autor*innen der Med Uni Graz
- Petek Erwin
- Wagner Klaus
- Co-Autor*innen der Med Uni Graz
- Kroisel Peter
- Zierler Hannelore
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- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Adult -
- Base Sequence -
- Blotting, Southern -
- Fragile X Mental Retardation Protein -
- Fragile X Syndrome - genetics
- Gene Deletion - genetics
- Humans - genetics
- Male - genetics
- Molecular Sequence Data - genetics
- Mosaicism - genetics
- Nerve Tissue Proteins - genetics
- Polymerase Chain Reaction - genetics
- RNA-Binding Proteins - genetics
- Find related publications in this database (Keywords)
- Fragile X Syndrome
- Mosaicism
- Fmr1 Gene
- Deletion