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Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systems

10 Jun 2009

Abstract excerpt

Mutations of FOXL2 are responsible for the Blepharophimosis-Ptotsis-Epicantus-inversus Syndrome (BPES), involving complex eyelid malformations often associated with premature ovarian failure (POF). Loss-of-function mutations are expected to lead to BPES associated with POF, whereas hypomorphic mutations would lead to BPES without ovarian dysfunction. However, multiple exceptions to the genotype-phenotype...

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PMID: 19515849
DOI: 10.1093/hmg/ddp273

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