PuSH - Publication Server of Helmholtz Zentrum München: Identification of a novel heterozygous <em>de novo</em> 7-bp frameshift deletion in <em>PBX1 </em>by whole-exome sequencing causing a multi-organ syndrome including bilateral dysplastic kidneys and hypoplastic clavicles.

Navigation

Home

Deutsch

Research

Advanced Search

Browse by ...

... Journal

... Publication Type

... Research Data

... Publication Year

Publication overview

Support & Contact

Contact persons

Help

Data protection

Riedhammer, K.M.* ; Siegel, C.* ; Alhaddad, B.* ; Montoya, C.* ; Kovács-Nagy, R.* ; Wagner, M. ; Meitinger, T. ; Hoefele, J.*

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.

Front. Pediatr. 5:251 (2017)

Publ. Version/Full Text

DOI

	Open Access Gold

Abstract
Metrics
Extra information

Introduction: Congenital anomalies of the kidney and urinary tract (CAKUT) represent the primary cause of chronic kidney disease in children. Many gene s have been attributed to the genesis of this disorder. Recently, haploinsufficiency of PBX1 caused by microdeletions has been shown to result in bilateral renal hypoplasia and other organ malformations. Materials and methods: Here, we report on a 14-year-old male patient with congenital bilateral dysplastic kidneys, cryptorchidism, hypoplastic clavicles, developmental delay, impaired intelligence, and minor dysmorphic features. Presuming a syndromic origin, we performed SNP array analysis to scan for large copy number variations (CNVs) followed by whole-exome sequencing (WES). Sanger sequencing was done to confirm the variant's de novo status. Results: SNP array analysis did not reveal any microdeletions or -duplications larger than 50 or 100 kb, respectively. WES identified a novel heterozygous 7-bp frameshift deletion in PBX1 (c.413_419del, p. Gly138Valfs*40) resulting in a loss-of-function. The de novo status could be confirmed by Sanger sequencing. Discussion: By WES, we identified a novel heterozygous de novo 7-bp frameshift deletion in PBX1. Our findings expand the spectrum of causative variants in PBX1-related CAKUT. In this case, WES proved to be the apt technique to detect the variant responsible for the patient's phenotype, as single gene testing is not feasible given the multitude of genes involved in CAKUT and SNP array analysis misses rare single-nucleotide variants and small Indels.

Altmetric

Additional Metrics?

[➜Log in]

Edit extra informations Login

Publication type Article: Journal article

Document type Scientific Article

Corresponding Author

Keywords Cakut ; Developmental Delay ; Dysplastic Kidneys ; Hypoplastic Clavicles ; Pbx1; Congenital-anomalies; Urinary-tract

ISSN (print) / ISBN 2296-2360

e-ISSN 2296-2360

Journal Frontiers in Pediatrics

Quellenangaben Volume: 5, Article Number: 251

Publisher Frontiers

Publishing Place Lausanne

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Institute of Human Genetics (IHG)