Logo Medical Science Monitor

Call: +1.631.470.9640
Mon - Fri 10:00 am - 02:00 pm EST

Contact Us

Logo Medical Science Monitor Logo Medical Science Monitor Logo Medical Science Monitor

29 May 2008

TCF2 gene mutation leads to nephro-urological defects of unequal severity: an open question

Marco Zaffanello, Milena Brugnara, Massimo Franchini, Vassilios Fanos

Med Sci Monit 2008; 14(6): RA78-86 :: ID: 859026

Abstract

There are several genes known to be involved in simple renal or combined renal-extrarenal aberrations. Of these, the transcription factor 2 gene is expressed longer, from very early embryogenesis and throughout organ development during pregnancy. Transcription factor 2 gene encodes the hepatocyte nuclear factor-1 beta transcript, which is a member of the homeodomain-containing superfamily of transcription factors. Transcription factor 2 gene mutations may be associated with a wide variability in severity and pattern of clinical symptoms. Transcription factor 2 gene mutation may be responsible for approximately one-third of children having isolated renal cysts, multicystic dysplastic kidneys, oligomeganephronia, hypo-dysplastic kidneys, horseshoe kidneys, and hyperechogenic kidneys. The wide clinical presentation of hepatocyte nuclear factor-1 beta mutations suggests a broad role of this transcription factor throughout development. The complexity of phenotypes is quite interesting because it could depend on the vast expression time of this gene derangement during fetal development or on different gene-gene and gene-environmental interactions during different stages of embryogenesis. The current literature is reviewed concerning the malformations that have been associated with transcription factor 2 gene mutations involving primarily the kidneys and occurring both in an isolated form and in association with other defective organs to characterize the patterns of this genetic disease.

Keywords: Phenotype, Mutation - genetics, Kidney Diseases - pathology, Urologic Diseases - pathology, Hepatocyte Nuclear Factor 1-beta - genetics

Add Comment 0 Comments

Editorial

01 March 2024 : Editorial  

Editorial: First Regulatory Approvals for CRISPR-Cas9 Therapeutic Gene Editing for Sickle Cell Disease and Transfusion-Dependent β-Thalassemia

Dinah V. Parums

DOI: 10.12659/MSM.944204

Med Sci Monit 2024; 30:e944204

0:00

In Press

18 Mar 2024 : Clinical Research  

Sexual Dysfunction in Women After Tibial Fracture: A Retrospective Comparative Study

Med Sci Monit In Press; DOI: 10.12659/MSM.944136  

0:00

21 Feb 2024 : Clinical Research  

Potential Value of HSP90α in Prognosis of Triple-Negative Breast Cancer

Med Sci Monit In Press; DOI: 10.12659/MSM.943049  

22 Feb 2024 : Review article  

Differentiation of Native Vertebral Osteomyelitis: A Comprehensive Review of Imaging Techniques and Future ...

Med Sci Monit In Press; DOI: 10.12659/MSM.943168  

23 Feb 2024 : Clinical Research  

A Study of 60 Patients with Low Back Pain to Compare Outcomes Following Magnetotherapy, Ultrasound, Laser, ...

Med Sci Monit In Press; DOI: 10.12659/MSM.943732  

Most Viewed Current Articles

16 May 2023 : Clinical Research  

Electrophysiological Testing for an Auditory Processing Disorder and Reading Performance in 54 School Stude...

DOI :10.12659/MSM.940387

Med Sci Monit 2023; 29:e940387

0:00

17 Jan 2024 : Review article  

Vaccination Guidelines for Pregnant Women: Addressing COVID-19 and the Omicron Variant

DOI :10.12659/MSM.942799

Med Sci Monit 2024; 30:e942799

0:00

14 Dec 2022 : Clinical Research  

Prevalence and Variability of Allergen-Specific Immunoglobulin E in Patients with Elevated Tryptase Levels

DOI :10.12659/MSM.937990

Med Sci Monit 2022; 28:e937990

0:00

01 Jan 2022 : Editorial  

Editorial: Current Status of Oral Antiviral Drug Treatments for SARS-CoV-2 Infection in Non-Hospitalized Pa...

DOI :10.12659/MSM.935952

Med Sci Monit 2022; 28:e935952

0:00

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750