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Hydatidiform Moles

  • Ngoc Minh Phuong Nguyen
  • Pierre-Adrien Bolze
  • Rima SlimEmail author
Chapter

Abstract

Hydatidiform mole (HM) is a form of human pregnancy loss that is characterized by the absence of, or abnormal, embryonic development and hyperproliferation of the trophoblast. The common form is sporadic and has a multifactorial etiology. Recurrent HM has a Mendelian etiology and segregates according to an autosomal recessive mode of transmission. To date, two genes, NLRP7 and KHDC3L, responsible for recurrent HM have been identified. NLRP7 is the major gene for this condition and underlies the etiology of recurrent HM in 55% of patients with at least two occurrences of HM. Here, we review the current knowledge about this condition and focus on the known roles of NLRP7 in the pathogenesis of recurrent HM.

Keywords

Hydatidiform mole NLRP7 Imprinting defect Subcortical maternal complex (SCMC) Early embryonic arrest Decreased inflammation Delayed rejection 

Abbreviations

ASC

Apoptosis-associated speck-like protein containing a CARD

ATP

Adenosine triphosphate

CARD

Caspase activation and recruitment domain

CDKN1C

Cyclin dependent kinase inhibitor 1C

CHM

Complete hydatidiform mole

FIGO

International Federation of Gynecology and Obstetrics

GTN

Gestational trophoblastic neoplasia

hCG

Human chorionic gonadotropin

HEK293

Human embryonic kidney cells 293

HM

Hydatidiform mole

IL1B

Interleukin 1 beta

KHDC3

KH domain-containing protein 3

KHDC3L

KH domain containing 3 like, subcortical maternal complex member

LPS

Lipopolysacharide

LRR

Leucine-rich domain

NACHT

NAIP, CIITA, HET-E, and TP1 domain

NLR

NOD-like receptor

NLRP2

NLR family pyrin domain containing 2

NLRP3

NLR family pyrin domain containing 3

NLRP5

NLR family pyrin domain containing 5

NLRP7

NLR family pyrin domain containing 7

NOD

Nucleotide-binding oligomerization domain

OOEP

Oocyte expressed protein

p57KIP2

The protein coded by CDKN1C

PADI6

Peptidyl arginine deiminase 6

PHM

Partial hydatidiform mole

POC

Product of conception

PYD

Pyrin domain

RHM

Recurrent hydatidiform mole

SCMC

Subcortical maternal complex

THP1

Transfected monocytic cell line

TLE6

Transducin like enhancer of split 6

ZBED3

Zinc finger BED-type containing 3

Notes

Acknowledgements

NMPN was supported by fellowships from the Réseau Québécois en Reproduction, McGill Faculty of Medicine, RI-MUHC Desjardins Studentship in Child Health Research, and CRRD. This work was supported by the Canadian Institute of Health Research [MOP-130364] to RS.

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Ngoc Minh Phuong Nguyen
    • 1
    • 2
  • Pierre-Adrien Bolze
    • 3
  • Rima Slim
    • 1
    • 2
    Email author
  1. 1.Department of Human GeneticsMcGill University Health Centre Research InstituteMontréalCanada
  2. 2.Department of Obstetrics and GynecologyMcGill University Health Centre Research InstituteMontréalCanada
  3. 3.French Reference Center for Trophoblastic DiseasesUniversité de Lyon 1 Claude Bernard, University Hospital Lyon SudPierre BéniteFrance

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