The genetic causes of male infertility

Diverse monogenic subforms of human spermatogenic failure.

Liina Nagirnaja, Alexandra M Lopes, Wu-Lin Charng, Brian Miller, Rytis Stakaitis, Ieva Golubickaite, Alexandra Stendahl, Tianpengcheng Luan, Corinna Friedrich, Eisa Mahyari, Eloise Fadial, Laura Kasak, Katinka Vigh-Conrad, Manon S Oud, Miguel J Xavier, Samuel R Cheers, Emma R James, Jingtao Guo, Timothy G Jenkins, Antoni Riera-Escamilla

2022-12-26

Non-obstructive azoospermia (NOA) is the most severe form of male infertility and typically incurable. Defining the genetic basis ..

Zinc finger RNA binding protein 2 (ZFR2) is not required for male fertility in the mouse

Lachlan M Cauchi, Brendan J Houston, Liina Nagirnaja, Anne E O'Connor, D Jo Merriner, Kenneth Aston, Peter N Schlegel, Don F Conrad, Richard Burke, Moira K O'Bryan

2022-09-01

BACKGROUND: Thousands of genes are expressed during spermatogenesis and male infertility has a strong genetic component. Within th..

DDB1-and CUL4-associated factor 12-like protein 1 (Dcaf12l1) is not essential for male fertility in mice

Brendan J Houston, Alexandra M Lopes, Maris Laan, Liina Nagirnaja, Anne E O'Connor, D Jo Merriner, Joseph Nguyen, Margus Punab, Antoni Riera-Escamilla, Csilla Krausz, Kenneth Ivan Aston, Donald F Conrad, Moira K O'Bryan

2022-07-29

Male infertility is a common condition affecting at least 7% of men worldwide and is often genetic in origin. Using whole exome se..

Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management

Laura Kasak, Kristiina Lillepea, Liina Nagirnaja, Kenneth Aston, Peter N Schlegel, Joao Goncalves, Filipa Carvalho, Daniel Moreno-Mendoza, Kristian Almstrup, Michael L Eisenberg, Keith A Jarvi, Moira K O'Bryan, Alexandra M Lopes, Donald F Conrad, Margus Punab, Maris Laan

2022-05-10

STUDY QUESTION: What is the load, distribution and added clinical value of secondary findings (SFs) identified in exome sequencing..

Human INHBB Gene Variant (c.1079T>C:p.Met360Thr) Alters Testis Germ Cell Content, but Does Not Impact Fertility in Mice

Brendan J Houston, Anne E O'Connor, Degang Wang, Georgia Goodchild, D Jo Merriner, Haitong Luan, Don F Conrad, Liina Nagirnaja, Kenneth Aston, Sabine Kliesch, Margot J Wyrwoll, Corinna Friedrich, Frank Tuettelmann, Craig Harrison, Moira K O'Bryan, Kelly Walton

2022-03-01

Testicular-derived inhibin B (α/β B dimers) acts in an endocrine manner to suppress pituitary production of follicle-stimulating h..

A de novo paradigm for male infertility.

MS Oud, RM Smits, HE Smith, FK Mastrorosa, GS Holt, BJ Houston, PF de Vries, BKS Alobaidi, LE Batty, H Ismail, J Greenwood, H Sheth, A Mikulasova, GDN Astuti, C Gilissen, K McEleny, H Turner, J Coxhead, S Cockell, DDM Braat

2022-01-10

De novo mutations are known to play a prominent role in sporadic disorders with reduced fitness. We hypothesize that de novo mutat..

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 Aston, Csilla Krausz, Frank Tuttelmann, 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 ..