A family with a molecular diagnosis of cases with different allelic variants of the FMR1
gene is reported.
Some of the gene candidates and their function in the pathogenesis of primary premature ovarian insufficiency Gene Gene locus Function of a gene product FMR1
Prior reports differ in their estimates of the analytical sensitivity of PCR to detect large FMR1
expansions; some report sensitivity down to 1% mosaicism (15), others have reported difficulty in amplifying large alleles (17-18) or amplifying premutation alleles in a background of full mutations (19).
El SXF es causado por una alteracion en el gen FMR1
, con locus Xq27.
Fragile X syndrome: The FMR1
CGG repeat distribution among world populations.
Citation: "Molecular analysis of FMR1
reactivation in fragile-X induced pluripotent stem cells and their neuronal derivatives;" Ori Bar-Nur et al.
repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure.
Premature ovarian failure also is associated with FMR1
repeat expansions, potentially including repeat sizes in the up per part of the normal range.
En el caso del cromosoma X fragil, el extremo del gen FMR1
situado en la banda Xq27.
Methylation analysis of FMR1
promoter and Xist genes revealed normal methylation pattern for both the genes (Fig.
Mutations in certain genes such as the FMR1
gene, which plays a role in neural development, can result in autistic features.
7) On the other hand, clinical interpretation depends on the clinical context: For example, an FMR1
gene premutation is interpreted differently if the patient is a child with developmental delay, a pregnant woman, a woman having trouble becoming pregnant, or an elderly man with ataxia.