AXDND1 and male infertility: As part of the GEMINI study to define genetic causes of male infertility, we undertook exome sequencing of infertile men presenting with azoospermia or severe oligozoospermia and identified an azoospermic Portuguese man (patient 1) carrying a homozygous stop-gain variant in the dynein gene AXDND1 (c.937T>C; p.R313X) (Fig. 1A) (first reported in [21]).