Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles

Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles

IntroductionCongenital anomalies of the kidney and urinary tract (CAKUT) represent the primary cause of chronic kidney disease in children. Many genes have been attributed to the genesis of this disorder. Recently, haploinsufficiency of PBX1 caused by microdeletions has been shown to result in bilat...

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Bibliographic Details
Main Authors: Korbinian Maria Riedhammer, Corinna Siegel, Bader Alhaddad, Carmen Montoya, Reka Kovacs-Nagy, Matias Wagner, Thomas Meitinger, Julia Hoefele
Format: Article
Language:English
Published: Frontiers Media S.A. 2017-11-01
Series:Frontiers in Pediatrics
Subjects:
CAKUT
PBX1
dysplastic kidneys
hypoplastic clavicles
developmental delay
Online Access:http://journal.frontiersin.org/article/10.3389/fped.2017.00251/full

Internet

http://journal.frontiersin.org/article/10.3389/fped.2017.00251/full

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