Fulltext

Prioritization of putatively detrimental variants in euploid miscarriages

Buonaiuto S 1 , Biase ID 2 , Aleotti V 3 , Ravaei A 3 , Marino A 4 , Damaggio G 5 Show all authors , Chierici M 6 , Pulijala M 7 , D'Ambrosio P 2 , Esposito G 2 , Ayub Q 7 , Furlanello C 8 , Greco P 9 , Capalbo A 4 , Rubini M 3 , Biase SD 2 , Colonna V 10

Affiliations 

  • 1 University of Campania Luigi Vanvitelli, Naples, 81100, Italy
  • 2 MeriGen Research, Naples, 80131, Italy
  • 3 Department of Neurosciences and Rehabilitation, University of Ferrara, Ferrara, 44121, Italy
  • 4 Igenomix Italy, Marostica, 36063, Italy
  • 5 University of Naples Federico II, Naples, Italy
  • 6 Fondazione Bruno Kessler, DSH Lab, Trento, 38123, Italy
  • 7 Monash University Malaysia Genomics Facility, Tropical Medicine and Biology Multidisciplinary Platform, 47500, Bandar Sunway, Malaysia
  • 8 HK3 Lab, Rovereto, 38068, Italy
  • 9 Department of Medical Sciences, University of Ferrara, Ferrara, 44121, Italy
  • 10 Institute of Genetics and Biophysics, National Research Council, Naples, 80111, Italy. [email protected]
Sci Rep, 2022 Feb 07;12(1):1997.
PMID: 35132093 DOI: 10.1038/s41598-022-05737-3

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.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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