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

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

Abstract Background A heterozygous natriuretic peptide receptor 2 (NPR2) gene c.2455C>T mutation was identified as a cause of familial idiopathic short stature (ISS). Only two cases with this mutation were reported previously, and the probands with ISS had no organ system defects. Methods Next‐ge...

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Bibliographic Details
Main Authors: Thi Minh Thi Ha, Tran Thao Nguyen Nguyen, Thi Mai Ngan Nguyen, Huu Nguyen Nguyen
Format: Article
Language:English
Published: Wiley 2021-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
fragile site at 16q22.1
NPR2 gene c.2455C>T
repeated pregnancy loss
shortened long bones
variant of paracentric heterochromatin of chromosome 4p
Online Access:https://doi.org/10.1002/mgg3.1637

Internet

https://doi.org/10.1002/mgg3.1637

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