Premature ovarian failure and FMR1 premutation co-segregation in a large Brazilian family.

Abstract

Fragile X syndrome is the most common form of inherited mental retardation in men. The molecular mechanism underlying the disease is an amplification of a polymorphic trinucleotide repeat (CGG)n located at 5' end of FMR1 which promotes transcriptional silencing of the gene. Four different classes of alleles could be distinguished in the population based on the size of the repeat, however only large amplifications over 200 CGG are associated with the disease. In the past decade several authors have associated premutated alleles, which harbor expansions from 61 to 200 repeats, with the occurrence of premature ovarian failure (POF). In this work we describe a large Brazilian family in which a POF/premutated woman has transmitted to five out of seven daughters a FMR1 premutated allele. From these five women with premutations, three have experienced premature ovarian failure. Our data clearly indicate a co-segregation pattern of inheritance between POF and fragile X premutation.

• Authors: M C Machado-Ferreira, M A Costa-Lima, R T Boy, G S Esteves, M M G Pimentel
• Journal: International journal of molecular medicine (Int J Mol Med) Vol. 10 Issue 2 Pg. 231-3 (Aug 2002) ISSN: 1107-3756 [Print] Greece
• PMID: 12119565 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• FMR1 protein, human
• Nerve Tissue Proteins
• RNA-Binding Proteins
• Fragile X Mental Retardation Protein

Topics

• Adult
• Alleles
• Brazil
• Chromosome Segregation
• Chromosomes, Human, X (genetics)
• Female
• Fragile X Mental Retardation Protein
• Gene Silencing
• Humans
• Male
• Nerve Tissue Proteins (genetics)
• Pedigree
• Primary Ovarian Insufficiency (genetics)
• RNA-Binding Proteins
• Trinucleotide Repeats