Abstract

Miscarriage is the spontaneous termination of a pregnancy before 24 weeks of gestation. We studied the genome of euploid miscarried embryos from mothers in the range of healthy adult individuals to understand genetic susceptibility to miscarriage not caused by chromosomal aneuploidies. We developed gp , a pipeline that we used to prioritize 439 unique variants in 399 genes, including genes known to be associated with miscarriages. Among the prioritized genes we found STAG2 coding for the cohesin complex subunit, for which inactivation in mouse is lethal, and TLE4 a target of Notch and Wnt, physically interacting with a region on chromosome 9 associated to miscarriages.

Details

Title
Prioritization of putatively detrimental variants in euploid miscarriages
Author
Buonaiuto, Silvia 1 ; Biase Immacolata Di 2 ; Aleotti Valentina 3 ; Amin, Ravaei 3 ; Marino, Adriano De 4 ; Damaggio Gianluca 5 ; Chierici, Marco 6 ; Pulijala Madhuri 7 ; D’Ambrosio Palmira 8 ; Esposito, Gabriella 8 ; Ayub Qasim 7 ; Furlanello Cesare 9 ; Greco Pantaleo 10 ; Capalbo, Antonio 4 ; Rubini, Michele 3 ; Biase Sebastiano Di 11 ; Colonna Vincenza 12 

 University of Campania Luigi Vanvitelli, Naples, Italy (GRID:grid.9841.4) (ISNI:0000 0001 2200 8888) 
 MeriGen Research, Naples, Italy (GRID:grid.9841.4) 
 University of Ferrara, Department of Neurosciences and Rehabilitation, Ferrara, Italy (GRID:grid.8484.0) (ISNI:0000 0004 1757 2064) 
 Igenomix Italy, Marostica, Italy (GRID:grid.511224.1) 
 University of Naples Federico II, Naples, Italy (GRID:grid.4691.a) (ISNI:0000 0001 0790 385X) 
 Fondazione Bruno Kessler, DSH Lab, Trento, Italy (GRID:grid.20191.3b) 
 Monash University Malaysia Genomics Facility, Bandar Sunway, Malaysia (GRID:grid.440425.3) (ISNI:0000 0004 1798 0746); Monash University Malaysia, School of Science, Bandar Sunway, Malaysia (GRID:grid.440425.3) (ISNI:0000 0004 1798 0746) 
 MeriGen Research, Naples, Italy (GRID:grid.440425.3) 
 HK3 Lab, Rovereto, Italy (GRID:grid.440425.3) 
10  University of Ferrara, Department of Medical Sciences, Ferrara, Italy (GRID:grid.8484.0) (ISNI:0000 0004 1757 2064) 
11  MeriGen Research, Naples, Italy (GRID:grid.8484.0) 
12  National Research Council, Institute of Genetics and Biophysics, Naples, Italy (GRID:grid.5326.2) (ISNI:0000 0001 1940 4177) 
Publication year
2022
Publication date
2022
Publisher
Nature Publishing Group
e-ISSN
20452322
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2626121935
Copyright
© The Author(s) 2022. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.