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

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 spermat

SUBMITTER: Muranishi Y 

PROVIDER: S-EPMC11420532 | biostudies-literature | 2024 Jan-Dec

REPOSITORIES: biostudies-literature