biostudies-literatureLi YInnovative Research Group Project of the National Natural Science Foundation of China41-51https://www.ebi.ac.uk/biostudies/studies/S-EPMC9840726biostudies-literatureUnknown40(1)<h4>Purpose</h4>The aim of this study is to identify the genetic cause of primary ciliary dyskinesia (PCD) and male infertility in two unrelated Han Chinese families.<h4>Methods</h4>We performed whole-exome sequencing in two unrelated male Han Chinese patients suffering from infertility and PCD to identify the pathogenic variants. Ultrastructural and immunostaining analyses of patient's spermatozoa were performed to characterize the effect of the variants. The pathogenicity of the variants was validated using patient's spermatozoa by western blotting and immunostaining analysis. Intracytoplasmic sperm injection (ICSI) was conducted in the affected families.<h4>Results</h4>Three variants in leucine-rich repeat containing 6 (LRRC6) [patient 1(compound heterozygote): NM_012472: c.538C > T, (pJournal of assisted reproduction and geneticsIdentification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility.PMC9840726819714478217160882101961Li HTu CZhang HTan CNie HZhang QLi YLu GTan YQLin GMeng LDu JWang YfalseIdentification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility.<h4>Purpose</h4>The aim of this study is to identify the genetic cause of primary ciliary dyskinesia (PCD) and male infertility in two unrelated Han Chinese families.<h4>Methods</h4>We performed whole-exome sequencing in two unrelated male Han Chinese patients suffering from infertility and PCD to identify the pathogenic variants. Ultrastructural and immunostaining analyses of patient's spermatozoa were performed to characterize the effect of the variants. The pathogenicity of the variants was validated using patient's spermatozoa by western blotting and immunostaining analysis. Intracytoplasmic sperm injection (ICSI) was conducted in the affected families.<h4>Results</h4>Three variants in leucine-rich repeat containing 6 (LRRC6) [patient 1(compound heterozygote): NM_012472: c.538C > T, (p2023-01-01T00:00:00Z2023 Jan2026-05-29T07:15:51.792Z2025-04-06T12:29:09.37ZS-EPMC98407263651579910.1007/s10815-022-02681-z