Ann-Christin Tewes1, Susanne Ledig1, Frank Tüttelmann1, Sabine Kliesch2, Peter Wieacker3. 1. Institute of Human Genetics, University of Münster, Münster, Germany. 2. Department of Clinical Andrology, Centre of Reproductive Medicine and Andrology, University of Münster, Münster, Germany. 3. Institute of Human Genetics, University of Münster, Münster, Germany. Electronic address: wieacker@uni-muenster.de.
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.
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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