Male Fertility Gene Atlas

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Table 1: Overview of the study cohorts analyzed by whole exome sequencing

TA-SHMA, Asaf, et al. Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility. PLoS genetics, 2018, 14. Jg., Nr. 8, S. e1007602.

Publication: https://doi.org/10.1371/journal.pgen.1007602

Description

Abbreviations:
y: years
m: months
PCD: Primary ciliary dyskinesia

Disclaimer

The publication Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility by Asaf Ta-Shma, Rim Hjeij, Zeev Perles, Gerard W. Dougherty, Ibrahim Abu Zahira, Stef J. F. Letteboer, Dinu Antony, Alaa Darwish, Dorus A. Mans, Sabrina Spittler, Christine Edelbusch, Sandra Cindrić, Tabea Nöthe-Menchen, Heike Olbrich, Friederike Stuhlmann, Isabella Aprea, Petra Pennekamp, Niki T. Loges, Oded Breuer, Avraham Shaag, Azaria J. J. T. Rein, Elif Yilmaz Gulec, Alper Gezdirici, Revital Abitbul, Nael Elias, Israel Amirav, Miriam Schmidts, Ronald Roepman, Orly Elpeleg, Heymut Omran is published under an open access license: https://creativecommons.org/licenses/by/4.0/. Granted rights: share — copy and redistribute the material in any medium or format and adapt — remix, transform, and build upon the material for any purpose, even commercially.

Curation by the MFGA team

Pie chart of selected column

Table

Center of Analysis Families (consanguineous) males/females Age range Origin Inclusion criteria Mutations in MNS1 individuals
Israel 8 (8) 7/1 1m-30y Israel Laterality defects; no PCD c.724T>C;p.Arg242*(2/8) 8
Germany 36 (14) 18/19 2y-59y Germany(27);Israel(8);Switzerland(1);Turkey(1) Laterality defects; no PCD none 37
Netherlands 40(37) 23/17 0y-16y Turkey Laterality defects; no PCD c.724T>C;p.Arg242*(1/40) 40
Total 84(59) 48/37 0y-59y - - 3/85 85