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Biallelic variants in KCTD19 associated with male factor infertility and oligoasthenoteratozoospermia

16 May 2023

Abstract excerpt

STUDY QUESTION: Can whole-exome sequencing (WES) reveal new genetic factors responsible for male infertility characterized by oligozoospermia? SUMMARY ANSWER: We identified biallelic missense variants in the Potassium Channel Tetramerization Domain Containing 19 gene (KCTD19) and confirmed it to be a novel pathogenic gene for male infertility. WHAT IS KNOWN ALREADY: KCTD19 is a key transcriptional regulator that...

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PMID: 37192818
DOI: 10.1093/humrep/dead095

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