Whole-Genome Sequencing Identifies Potentially Causative Variants in SOX30, AKAP4, and RNF220 in Non-Obstructive Azoospermia

doi:10.3390/ijms27167230

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Whole-Genome Sequencing Identifies Potentially Causative Variants in SOX30, AKAP4, and RNF220 in Non-Obstructive Azoospermia

13 Aug 2026

Abstract excerpt

More than 70% of non-obstructive azoospermia (NOA) cases remain idiopathic, and the underlying genetic causes need to be investigated. In this study, we aimed to identify genes and variants associated with the etiology of NOA. Two NOA patients from consanguineous families, with normal karyotypes and no Y-chromosome microdeletions, were selected for whole-genome sequencing (WGS). Candidate variants were validated...

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Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Sperm and Testicular Function
Testicular diseases and treatments

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PMID: 42653232
DOI: 10.3390/ijms27167230

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