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

IF 2.7 3区医学 Q2 OBSTETRICS & GYNECOLOGY Reproductive Medicine and Biology Pub Date : 2024-09-24 eCollection Date: 2024-01-01 DOI:10.1002/rmb2.12608

Yuki Muranishi, Yuko Katoh-Fukui, Atsushi Hattori, Yoshitomo Kobori, Akiyoshi Osaka, Hiroshi Okada, Toshiyuki Iwahata, Masafumi Kon, Nobuo Shinohara, Maki Fukami

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Abstract

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.

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一名孤立性非梗阻性无精子症患者的 KCTD19 复合杂合子变异。

病例一名患有非梗阻性无精子症（NOA）的 40 岁日本男子被发现携带 KCTD19 的罕见变异，KCTD19 是新发现的生精功能障碍的致病基因。这名患者是通过对97名病因不明的孤立性无精子症男性进行KCTD19基因突变筛查而发现的：该患者的 KCTD19 存在两个杂合变异，影响剪接供体位点的共识序列 [c.300+2T>A 和 c.2667C>T (p.E889E)]。据预测，这两个变异都会导致外显子跳转。长读测序证实了这两个变异的复合杂合性。患者的睾丸较小，促卵泡激素水平轻度升高，但无其他表型异常。睾丸组织学检查显示，精母细胞成熟停滞与严重精子生成功能低下之间存在界限：这些结果证明，KCTD19的双倍功能缺失变体是导致孤立性无精子症的罕见原因。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Reproductive Medicine and Biology Multiple-

CiteScore

5.70

自引率

5.90%

发文量

审稿时长

20 weeks

期刊介绍： Reproductive Medicine and Biology (RMB) is the official English journal of the Japan Society for Reproductive Medicine, the Japan Society of Fertilization and Implantation, the Japan Society of Andrology, and publishes original research articles that report new findings or concepts in all aspects of reproductive phenomena in all kinds of mammals. Papers in any of the following fields will be considered: andrology, endocrinology, oncology, immunology, genetics, function of gonads and genital tracts, erectile dysfunction, gametogenesis, function of accessory sex organs, fertilization, embryogenesis, embryo manipulation, pregnancy, implantation, ontogenesis, infectious disease, contraception, etc.