• PMID: 24934491
• Gene Name: DMRT1
• Condition: Cryptozoospermia, nonobstructive azoospermia
• Association: Associated
• Population size: 517
• Population details: 517 (171 patients with cryptozoospermia, 131 nonobstructive azoospermia, 215 normozoospermic controls)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Cryptozoospermia, nonobstructive azoospermia

DMRT1 mutations are rarely associated with male infertility

Tewes AC, Ledig S, Tüttelmann F, Kliesch S, Wieacker P.

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. CI - Copyright © 2014 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. FAU - Tewes, Ann-Christin AU - Tewes AC AD - Institute of Human Genetics, University of Münster, Münster, Germany. FAU - Ledig, Susanne AU - Ledig S AD - Institute of Human Genetics, University of Münster, Münster, Germany. FAU - Tüttelmann, Frank AU - Tüttelmann F AD - Institute of Human Genetics, University of Münster, Münster, Germany. FAU - Kliesch, Sabine AU - Kliesch S AD - Department of Clinical Andrology, Centre of Reproductive Medicine and Andrology, University of Münster, Münster, Germany.