Premature ovarian failure and FMR1 gene mutations: an update.
Screening for fragile X premutations is recommended for the routine work-up for any woman presenting with premature ovarian failure (POF). The reason for this is that women with POF have an approximate 5% chance of conceiving and this possibility may be increased further in the FRAXA premutation subgroup. Women need to be informed if they are at risk of having a child with fragile X syndrome. In addition, the identification of a family in which the fragile X repeat site is expanded can lead to the identification of other female family members at risk of transmitting fragile X syndrome. The identification of an index case should therefore trigger genetic counseling throughout the pedigree according to the wishes of the family.
Conway
G S
GS
Institute for Women's Health, UCLH NHS Foundation Trust, 250, Euston Road, London NW1 2PQ, United Kingdom. g.conway@ucl.ac.uk
D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008297:Male; D009154:Mutation; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human