The genetics of recurrent hydatidiform moles in Mexico: further evidence of a strong founder effect for one mutation in NLRP7 and its widespread.

Mónica AguinagaMaryam RezaeiIrma MonroyNawel MechtoufJavier PérezElsa MorenoYolotzin ValdespinoCarolina GalazGuadalupe RazoDaniela MedinaRaúl PiñaRima Slim

Published in: Journal of assisted reproduction and genetics (2021)

Our data confirm the strong founder effect for L750V, which appears to be the most common mutation in NLRP7. We also report on six healthy live births to five patients with biallelic NLRP7 mutations, two from spontaneous conceptions and four from donated ovum and discuss our recommendations for DNA testing and genetic counseling.

Keyphrases

nlrp inflammasome
gene expression
single molecule
big data
cell free
clinical practice
machine learning
autism spectrum disorder
dna methylation
hepatitis c virus
artificial intelligence
men who have sex with men
circulating tumor cells