Improving renal phenotype and evolving extra-renal features of 17q12 deletion encompassing the HNF1B gene.

ABSTRACT:

Background

HNF1B deletion/intragenic mutations are the most commonly identified genetic cause of congenital anomalies of the kidney and urinary tract (CAKUT) suggested by fetal ultrasound findings such as: parenchymal hyperechogenicity, overt cystic changes or gross morphological urinary system (UT) abnormalities. The postnatal evolution of these 17q12 deletions encompassing the HNF1B gene-associated findings has not been assessed in depth.

Methods

In this observational study, we present postnatal follow-up findings in 5 of 6 cases (one pregnancy was terminated on parental request) of fetal-onset cystic/hyperechogenic kidneys eventually diagnosed with 17q12 microdeletion encompassing the HNF1B gene between 2009 and 2017.

Results

Complete normaliza

SUBMITTER: Cleper R 

PROVIDER: S-EPMC8753471 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature