DMRT1 mutations are rarely associated with male infertility

Ann-Christin Tewes; Susanne Ledig; Frank Tüttelmann; Sabine Kliesch; Peter Wieacker

doi:10.1016/j.fertnstert.2014.05.022

DMRT1 mutations are rarely associated with male infertility

Fertil Steril. 2014 Sep;102(3):816-820.e3. doi: 10.1016/j.fertnstert.2014.05.022. Epub 2014 Jun 14.

Authors

Ann-Christin Tewes¹, Susanne Ledig¹, Frank Tüttelmann¹, Sabine Kliesch², Peter Wieacker³

Affiliations

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: [email protected].

PMID: 24934491
DOI: 10.1016/j.fertnstert.2014.05.022

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.

Keywords: DMRT1; male infertility; point mutation.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Azoospermia / genetics*
Case-Control Studies
Gene Frequency
Humans
Male
Oligospermia / genetics*
Point Mutation*
Polymorphism, Single Nucleotide
Retrospective Studies
Sertoli Cell-Only Syndrome / genetics
Transcription Factors / genetics*

Substances

DMRT1 protein
Transcription Factors

Supplementary concepts

Azoospermia, Nonobstructive