Ontology highlight
ABSTRACT:
SUBMITTER: Qin Y
PROVIDER: S-EPMC4517778 | biostudies-literature | 2015 Jul
REPOSITORIES: biostudies-literature
PLoS genetics 20150728 7
Premature ovarian failure (POF) is a rare, heterogeneous disorder characterized by cessation of menstruation occurring before the age of 40 years. Genetic etiology is responsible for perhaps 25% of cases, but most cases are sporadic and unexplained. In this study, through whole exome sequencing in a non-consanguineous family having four affected members with POF and Sanger sequencing in 432 sporadic cases, we identified three novel mutations in the fusion gene CSB-PGBD3. Subsequently functional ...[more]