Compound heterozygous KCTD19 variants in a man with isolated nonobstructive azoospermia.

Autor: Muranishi Y; Department of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo Japan.; Department of Renal and Genitourinary Surgery Hokkaido University Graduate School of Medicine Sapporo Japan., Katoh-Fukui Y; Department of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo Japan., Hattori A; Department of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo Japan., Kobori Y; International Center for Reproductive Medicine Dokkyo Medical University Saitama Medical Center Koshigaya Japan., Osaka A; International Center for Reproductive Medicine Dokkyo Medical University Saitama Medical Center Koshigaya Japan., Okada H; International Center for Reproductive Medicine Dokkyo Medical University Saitama Medical Center Koshigaya Japan., Iwahata T; International Center for Reproductive Medicine Dokkyo Medical University Saitama Medical Center Koshigaya Japan., Kon M; Department of Renal and Genitourinary Surgery Hokkaido University Graduate School of Medicine Sapporo Japan., Shinohara N; Department of Renal and Genitourinary Surgery Hokkaido University Graduate School of Medicine Sapporo Japan., Fukami M; Department of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo Japan.
Jazyk: angličtina
Zdroj: Reproductive medicine and biology [Reprod Med Biol] 2024 Sep 24; Vol. 23 (1), pp. e12608. Date of Electronic Publication: 2024 Sep 24 (Print Publication: 2024).
DOI: 10.1002/rmb2.12608
Abstrakt: Case: A 40-year-old Japanese man with nonobstructive azoospermia (NOA) was found to carry rare variants in KCTD19, a newly identified causative gene for spermatogenic failure. This patient was identified through mutation screening of KCTD19 in 97 men with etiology-unknown isolated NOA.
Outcome: The patient had two heterozygous variants in KCTD19 that affect consensus sequences of splice-donor sites [c.300+2T>A and c.2667C>T (p.E889E)]. Both variants were predicted to cause exon skipping. Long-read sequencing confirmed the compound heterozygosity of the variants. The patient exhibited small testes and a mildly elevated level of follicle-stimulating hormone but no other phenotypic abnormalities. Testicular histology showed borderline findings between spermatocyte maturation arrest and severe hypospermatogenesis.
Conclusion: These results provide evidence that biallelic loss-of-function variants of KCTD19 represent rare causes of isolated NOA.
Competing Interests: The authors declare no conflict of interest.
(© 2024 The Author(s). Reproductive Medicine and Biology published by John Wiley & Sons Australia, Ltd on behalf of Japan Society for Reproductive Medicine.)
Databáze: MEDLINE
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