The genetic causes of male infertility

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.

Brendan J Houston, Antoni Riera-Escamilla, Margot J Wyrwoll, Albert Salas-Huetos, Miguel J Xavier, Liina Nagirnaja, Corinna Friedrich, Don F Conrad, Kenneth I Aston, Csilla Krausz, Frank Tüttelmann, Moira K O'Bryan, Joris A Veltman, Manon S Oud

2021-09-08

BACKGROUND: Human male infertility has a notable genetic component, including well-established diagnoses such as Klinefelter syndr..

Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility

Chunyu Liu, Chaofeng Tu, Lingbo Wang, Huan Wu, Brendan J Houston, Francesco K Mastrorosa, Wen Zhang, Ying Shen, Jiaxiong Wang, Shixiong Tian, Lanlan Meng, Jiangshan Cong, Shenmin Yang, Yiwen Jiang, Shuyan Tang, Yuyan Zeng, Mingrong Lv, Ge Lin, Jinsong Li, Hexige Saiyin

2021-02-04

Asthenoteratozoospermia characterized by multiple morphological abnormalities of the flagella (MMAF) has been identified as a sub-..

The Sertoli cell expressed gene secernin-1 (Scrn1) is dispensable for male fertility in the mouse

Brendan J Houston, Liina Nagirnaja, D Jo Merriner, Anne E O'Connor, Hidenobu Okuda, Kenan Omurtag, Craig Smith, Kenneth I Aston, Donald F Conrad, Moira K O'Bryan

2021-01-25

BACKGROUND: Male infertility is a prevalent clinical presentation for which there is likely a strong genetic component due to the ..

Programmed Cell Death 2-Like (Pdcd2l) Is Required for Mouse Embryonic Development

Brendan J Houston, Manon S Oud, Daniel M Aguirre, D Jo Merriner, Anne E O'Connor, Ozlem Okutman, Stephane Viville, Richard Burke, Joris A Veltman, Moira K O'Bryan

2020-12-01

Globozoospermia is a rare form of male infertility where men produce round-headed sperm that are incapable of fertilizing an oocyt..

A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouse

Brendan J Houston, Donald F Conrad, Moira K O'Bryan

2020-04-04

Male infertility is a heterogeneous condition of largely unknown etiology that affects at least 7% of men worldwide. Classical gen..

Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia

MS Oud, O Okutman, LAJ Hendricks, PF de Vries, BJ Houston, LELM Vissers, MK O'Bryan, L Ramos, HE Chemes, S Viville, JA Veltman

2020-01-01

STUDY QUESTION: Can exome sequencing identify new genetic causes of globozoospermia? SUMMARY ANSWER: Exome sequencing in 15 cases ..