{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["10(12)"],"submitter":["Cleper R"],"pubmed_abstract":["<h4>Background</h4><i>HNF1B</i> 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 <i>HNF1B</i> gene-associated findings has not been assessed in depth.<h4>Methods</h4>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 <i>HNF1B</i> gene between 2009 and 2017.<h4>Results</h4>Complete normaliza"],"journal":["Translational pediatrics"],"pagination":["3130-3139"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8753471"],"repository":["biostudies-literature"],"pubmed_title":["Improving renal phenotype and evolving extra-renal features of 17q12 deletion encompassing the <i>HNF1B</i> gene."],"pmcid":["PMC8753471"],"pubmed_authors":["Cleper R","Simchoni S","Reisman L","Brabbing-Goldstein D","Ben-Sira L","Reches A","Yaron Y","Shapira D","Ben-Shachar S","Wolman I","Malinger G"],"additional_accession":[]},"is_claimable":false,"name":"Improving renal phenotype and evolving extra-renal features of 17q12 deletion encompassing the <i>HNF1B</i> gene.","description":"<h4>Background</h4><i>HNF1B</i> 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 <i>HNF1B</i> gene-associated findings has not been assessed in depth.<h4>Methods</h4>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 <i>HNF1B</i> gene between 2009 and 2017.<h4>Results</h4>Complete normaliza","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Dec","modification":"2025-04-26T18:31:55.781Z","creation":"2025-02-19T04:07:16.029Z"},"accession":"S-EPMC8753471","cross_references":{"pubmed":["35070826"],"doi":["10.21037/tp-21-386"]}}