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ADCY10 frameshift variant leading to severe recessive asthenozoospermia and segregating with absorptive hypercalciuria

18 Mar 2019

Abstract excerpt

STUDY QUESTION: Can whole exome sequencing (WES) reveal a novel pathogenic variant in asthenozoospermia in a multiplex family including multiple patients? SUMMARY ANSWER: Patients were discovered to be homozygous for a rare 2-bp deletion in the ADCY10 coding region (c.1205_1206del, rs779944215). WHAT IS KNOWN ALREADY: ADCY10 encodes for soluble adenylyl cyclase (sAC), which is the predominant adenylate cyclase in...

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PMID: 31119281
DOI: 10.1093/humrep/dez048

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