Genetic Basis of Male and Female Infertility

2017 ◽  
pp. 1-16 ◽  
Author(s):  
Rathika Mallepaly ◽  
Peter R. Butler ◽  
Amin S. Herati ◽  
Dolores J. Lamb
Keyword(s):  
Genetic Basis ◽  
Female Infertility ◽  
Male And Female

scholarly journals STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia

2020 ◽  
Vol 26 (9) ◽  
pp. 665-677
Author(s):  
Sylvie Jaillard ◽  
Kenneth McElreavy ◽  
Gorjana Robevska ◽  
Linda Akloul ◽  
Farah Ghieh ◽  
...  
Keyword(s):  
Dna Sequences ◽  
Genetic Basis ◽  
Missense Variant ◽  
Reproductive Organs ◽  
Female Infertility ◽  
Obstructive Azoospermia ◽  
Ovarian Insufficiency ◽  
Male And Female ◽  
Whole Exome ◽  
Pathological Development

Abstract Infertility, a global problem affecting up to 15% of couples, can have varied causes ranging from natural ageing to the pathological development or function of the reproductive organs. One form of female infertility is premature ovarian insufficiency (POI), affecting up to 1 in 100 women and characterised by amenorrhoea and elevated FSH before the age of 40. POI can have a genetic basis, with over 50 causative genes identified. Non-obstructive azoospermia (NOA), a form of male infertility characterised by the absence of sperm in semen, has an incidence of 1% and is similarly heterogeneous. The genetic basis of male and female infertility is poorly understood with the majority of cases having no known cause. Here, we study a case of familial infertility including a proband with POI and her brother with NOA. We performed whole-exome sequencing (WES) and identified a homozygous STAG3 missense variant that segregated with infertility. STAG3 encodes a component of the meiosis cohesin complex required for sister chromatid separation. We report the first pathogenic homozygous missense variant in STAG3 and the first STAG3 variant associated with both male and female infertility. We also demonstrate limitations of WES for the analysis of homologous DNA sequences, with this variant being ambiguous or missed by independent WES protocols and its homozygosity only being established via long-range nested PCR.

scholarly journals A comprehensive genetic assessment of male and female infertility using next-generation sequencing

2017 ◽  
Vol 108 (3) ◽  
pp. e240
Author(s):  
G.R. Kellogg ◽  
A. Pollock ◽  
R. Shraga ◽  
S. Parets ◽  
B. Patel ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Female Infertility ◽  
Next Generation ◽  
Male And Female ◽  
Genetic Assessment ◽  
Generation Sequencing

Involvement of Y-Encoded Zinc Finger Transcription Factors in Male and Female Infertility in Mice.

2011 ◽  
Vol 85 (Suppl_1) ◽  
pp. 102-102
Author(s):  
Paul S. Burgoyne ◽  
Nadege Vernet ◽  
Shantha Mahadevaiah ◽  
Maria Szot ◽  
James M.A. Turner ◽  
...  
Keyword(s):  
Transcription Factors ◽  
Zinc Finger ◽  
Female Infertility ◽  
Male And Female
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