De novo c.2455C>T mutation of NPR2 gene in a fetus with shortened long bones and a ventricular septal defect conceived by a mother with a fragile site at 16q22.1 and a father with a rare heterochromatic variant of chromosome 4 from Vietnam.

Minh Thi Thi HaTran Thao Nguyen NguyenThi Mai Ngan NguyenHuu Nguyen Nguyen

Published in: Molecular genetics & genomic medicine (2021)

This report provides clinical signs of a de novo heterozygous NPR2 gene c.2455C>T mutation in the fetus and shows paternal chromosomal aberrations causing repeated pregnancy loss.

Keyphrases

copy number
genome wide
heart failure
genome wide identification
early onset
left ventricular
preterm birth
gene expression
transcription factor
pregnant women
pregnancy outcomes