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A homozygous ARMC3 splicing variant causes asthenozoospermia and flagellar disorganization in a consanguineous family.

Clinical genetics - 1 Oct 2024

Rahim Fazal, Tao Liu, Khan Khalid, Ali Imtiaz, Zeb Aurang, Khan Ihsan, Dil Sobia, Abbas Tanveer, Hussain Ansar, Zubair Muhammad, Zhang Huan, Hui Ma, Khan Muzammil Ahmad, Shah Wasim, Shi Qinghua

Abstract excerpt

Male infertility due to asthenozoospermia is quite frequent, but its etiology is poorly understood. We recruited two infertile brothers, born to first-cousin parents from Pakistan, displaying idiopathic asthenozoospermia with mild stuttering disorder but no ciliary-related symptoms. Whole-exome sequencing identified a splicing variant (c.916+1G>A) in ARMC3, recessively co-segregating with asthenozoospermia in the...

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PMID: 39221575
DOI: 10.1111/cge.14575

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