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A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing

23 Feb 2016

Abstract excerpt

STUDY QUESTION: Can whole exome sequencing (WES) and in vitro validation studies be used to find the causative genetic etiology in a patient with primary ovarian failure and infertility? SUMMARY ANSWER: A novel follicle-stimulating hormone receptor (FSHR) mutation was found by WES and shown, via in vitro flow cytometry studies, to affect membrane trafficking. WHAT IS KNOWN ALREADY: WES may diagnose up to 25-35%...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 26911863
DOI: 10.1093/humrep/dew025

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