World Library  


Add to Book Shelf
Flag as Inappropriate
Email this Book

Plos Genetics : Nfia Haploinsufficiency is Associated with a Cns Malformation Syndrome and Urinary Tract Defects, Volume 3

By Heyningen, Veronica Van

Click here to view

Book Id: WPLBN0003924607
Format Type: PDF eBook :
File Size:
Reproduction Date: 2015

Title: Plos Genetics : Nfia Haploinsufficiency is Associated with a Cns Malformation Syndrome and Urinary Tract Defects, Volume 3  
Author: Heyningen, Veronica Van
Volume: Volume 3
Language: English
Subject: Journals, Science, Genetics
Collections: Periodicals: Journal and Magazine Collection (Contemporary), PLoS Genetics
Historic
Publication Date:
Publisher: Plos

Citation

APA MLA Chicago

Heyningen, V. V. (n.d.). Plos Genetics : Nfia Haploinsufficiency is Associated with a Cns Malformation Syndrome and Urinary Tract Defects, Volume 3. Retrieved from http://worldlibrary.in/


Description
Description : Complex central nervous system (CNS) malformations frequently coexist with other developmental abnormalities, but whether the associated defects share a common genetic basis is often unclear. We describe five individuals who share phenotypically related CNS malformations and in some cases urinary tract defects, and also haploinsufficiency for the NFIA transcription factor gene due to chromosomal translocation or deletion. Two individuals have balanced translocations that disrupt NFIA. A third individual and two half-siblings in an unrelated family have interstitial microdeletions that include NFIA. All five individuals exhibit similar CNS malformations consisting of a thin, hypoplastic, or absent corpus callosum, and hydrocephalus or ventriculomegaly. The majority of these individuals also exhibit Chiari type I malformation, tethered spinal cord, and urinary tract defects that include vesicoureteral reflux. Other genes are also broken or deleted in all five individuals, and may contribute to the phenotype. However, the only common genetic defect is NFIA haploinsufficiency. In addition, previous analyses of Nfia / knockout mice indicate that Nfia deficiency also results in hydrocephalus and agenesis of the corpus callosum. Further investigation of the mouse NfiaĆ¾/ and Nfia / phenotypes now reveals that, at reduced penetrance, Nfia is also required in a dosage-sensitive manner for ureteral and renal development. Nfia is expressed in the developing ureter and metanephric mesenchyme, and NfiaĆ¾/ and Nfia / mice exhibit abnormalities of the ureteropelvic and ureterovesical junctions, as well as bifid and megaureter. Collectively, the mouse Nfia mutant phenotype and the common features among these five human cases indicate that NFIA haploinsufficiency contributes to a novel human CNS malformation syndrome that can also include ureteral and renal defects.

 

Click To View

Additional Books


  • Plos Genetics : Mutations in Mitf and Pa... (by )
  • Plos Genetics : in Vivo Validation of a ... (by )
  • Plos Genetics : Functional Antagonism Be... (by )
  • Plos Genetics : a Comprehensive Genome-w... (by )
  • Plos Genetics : Ctip Mutations Cause Sec... (by )
  • Plos Genetics : Introducing Plos Genetic... (by )
  • Plos Genetics : Human Population Differe... (by )
  • Plos Genetics : Rare Copy Number Variant... (by )
  • Plos Genetics : Mechanisms for the Evolu... (by )
  • Plos Genetics : Allele-specific Down-reg... (by )
  • Plos Genetics : Genetic Drift of Hiv Pop... (by )
  • Plos Genetics : Regulon-specific Control... (by )
Scroll Left
Scroll Right

 



Copyright © World Library Foundation. All rights reserved. eBooks from World Library are sponsored by the World Library Foundation,
a 501c(4) Member's Support Non-Profit Organization, and is NOT affiliated with any governmental agency or department.