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Gene Review:

FRA10A - fragile site, folic acid type, rare,...

Homo sapiens

Sarafidou, T. et al., Morel, C.F. et al., De Leon-Luis, J. et al.

Morel, Duncan, Désilets,

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High impact information on FRA10A

Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein [1].
Our data also suggest that in the heterozygous state FRA10A is likely a benign folate-sensitive fragile site [1].
The FRA10AC1 gene consists of 19 exons and is transcribed in the centromeric direction from the FRA10A repeat [1].
Sequence analysis of a BAC clone spanning FRA10A identified a single, imperfect, but polymorphic CGG repeat that is part of a CpG island in the 5'UTR of a novel gene named FRA10AC1 [1].
We show that the expression of FRA10A, in parallel to the other cloned folate-sensitive fragile sites, is caused by an expansion and subsequent methylation of an unstable CGG trinucleotide repeat [1].

Associations of FRA10A with chemical compounds

A fragile site at 10q23 (FRA10A) in a phenytoin-exposed fetus: a case report and review of the literature [2].

Other interactions of FRA10A

Since phenytoin has been shown to decrease MTHFR activity in mice, we postulate that the fragile site at 10q23.3 in this fetus may have arisen secondary to a combination of the polymorphisms in MTHFR and exposure to this drug, and is indeed FRA10A [2].

Analytical, diagnostic and therapeutic context of FRA10A

In the present study we have refined the localization of the FRA10A folate-sensitive fragile site by fluorescence in situ hybridization [1].
Prenatal diagnosis of FRA10A: a case report and literature review [3].

References

Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein. Sarafidou, T., Kahl, C., Martinez-Garay, I., Mangelsdorf, M., Gesk, S., Baker, E., Kokkinaki, M., Talley, P., Maltby, E.L., French, L., Harder, L., Hinzmann, B., Nobile, C., Richkind, K., Finnis, M., Deloukas, P., Sutherland, G.R., Kutsche, K., Moschonas, N.K., Siebert, R., Gécz, J. Genomics (2004) [Pubmed]
A fragile site at 10q23 (FRA10A) in a phenytoin-exposed fetus: a case report and review of the literature. Morel, C.F., Duncan, A.M., Désilets, V. Prenat. Diagn. (2005) [Pubmed]
Prenatal diagnosis of FRA10A: a case report and literature review. De Leon-Luis, J., Santolaya-Forgas, J., May, G., Tonk, V., Shelton, D., Galan, I. Am. J. Med. Genet. A (2005) [Pubmed]

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