Ontology highlight
ABSTRACT:
SUBMITTER: Fogli A
PROVIDER: S-EPMC1180314 | biostudies-literature | 2003 Jun
REPOSITORIES: biostudies-literature
Fogli Anne A Rodriguez Diana D Eymard-Pierre Eléonore E Bouhour Françoise F Labauge Pierre P Meaney Brandon F BF Zeesman Susan S Kaneski Christine R CR Schiffmann Raphael R Boespflug-Tanguy Odile O
American journal of human genetics 20030421 6
Ovarian failure (OF) at age <40 years occurs in approximately 1% of all women. Other than karyotype abnormalities, very few genes are known to be associated with this ovarian dysfunction. We studied eight patients who presented with premature OF and white-matter abnormalities on magnetic resonance imaging. Neurological signs may be absent or present after OF. In seven patients, we report for the first time mutations in three of the five EIF2B genes (EIF2B2, -4, and -5) that were recently shown t ...[more]