DMRT1 mutations are rarely associated with male infertility

Capsule:
Because deletions of DMRT1 are found in XY gonadal dysgenesis, ovotesticular disorder, and male infertility, we sequenced DMRT1 in 171 male infertility patients and detected four possibly pathogenic mutations.

Authors:
Ann-Christin Tewes, M.Sc., Susanne Ledig, Ph.D., Frank Tüttelmann, M.D., Sabine Kliesch, M.D., Peter Wieacker, M.D.

Volume 102, Issue 3, Pages 816-820

Abstract:

Objective:
To study a potential association between male infertility and DMRT1 mutations.

Design:
Retrospective sequencing study.

Setting:
University hospital.

Patient(s):
171 patients with cryptozoospermia (sperm concentration <0.1 million/mL, n = 40) or nonobstructive azoospermia (n = 131), and 215 normozoospermic controls. Intervention(s):
Sequence analysis of DMRT1.

Main Outcome Measure(s):
Identification of rare variants in DMRT1 that are associated with male infertility.

Result(s):
In total, we detected four putative pathogenic mutations in six patients (3.5%) and less frequently in two controls (0.9%).

Conclusion(s):
Point mutations of DMRT1 may be rarely associated with male infertility.

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