A Homozygous Variant in DMRTB1 Is Associated With Non-Obstructive Azoospermia in Humans.

Clin GenetSep 13, 2026 (epub)
Case ReportMedical GeneticsUrologyPathology (Anatomic & Clinical)

YuHang Li, Shuai Lu, Xun Wang et al.

✦ AI-curated · Sources linked

Case in brief

A patient with non-obstructive azoospermia was found by whole-exome sequencing to carry a homozygous DMRTB1 variant, c.792-797del (p.265-266del). The variant was rare in public databases and classified as likely pathogenic under ACMG guidelines. Testicular histology showed seminiferous tubules without mature sperm. Structural modeling predicted localized perturbations involving residues 254-266, which may alter protein function. The authors considered the variant closely associated with the patient’s NOA and as genetic evidence relevant to its diagnosis.

What made this case unusual

The report links a homozygous DMRTB1 variant to human NOA, with testicular histology showing complete absence of mature sperm and modeling predicting localized structural changes.

Diagnostic / clinical pearl

In NOA, genetic evaluation may identify a potentially relevant DMRTB1 variant; interpret the finding alongside testicular histology and the limits of structural modeling.

Source

PubMed · PMID 42733096

Published in Clin Genet. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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