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FRAXE mutation analysis in three spanish families by Carbonell, Pablo; López, Isabel; Gabarrón, Joaquina; Bernabé, M. J.; Lucas, J. M.; Guitart, Miriam; Gabau, E.; Glover, Guillermo is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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Very little is known about the phenotype of FRAXE-positive individuals and the relation between the genotype/phenotype and genotypekytogenetic expression. We describe three families with normal and mildly affected individuals and a severely retarded male expressing fragility at the FRAXE locus or presenting different expansions at the CGG FRAXE triplet. In addition, we analyze the FRAXE mutation in sperm DNA from a retarded male carrier with a handicapped daughter expressing fragility at the FRAXE locus. Mental status in FRAXE individuals is highly variable and, although mild mental retardation is observed in most cases, several carrier males are apparently normal. It seems that methylation is not as strictly associated with size of CGG triplets in the FRAXE locus as in FRAXA, and it is possible that normal carrier individuals with fully methylated increments in lymphocytes have a certain proportion of unmethylated alleles in the critical (i.e., neural) tissues. FRAXE mutation is apparently similar to FRAXA in that males with somatic large methylated increments are carriers of small unmethylated Ones in germinal cells.

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Author

Carbonell, Pablo; López, Isabel; Gabarrón, Joaquina; Bernabé, M. J.; Lucas, J. M.; Guitart, Miriam; Gabau, E.; Glover, Guillermo

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)

Published

1996

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)