ePrints

Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly

Lookup NU author(s): Yaobo Xu, Dr Mauro Santibanez Koref, Professor John SayerORCiD

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.

Abstract

Autosomal recessive polycystic kidney disease (ARPKD) is an inherited ciliopathy leading to progressive kidney and liver disease. Biallelic mutations in the PKHD1 gene underlie this condition. We describe a child with bilaterally enlarged cystic kidneys, portal hypertension, and cerebral ventriculomegaly. Molecular genetic investigations using whole-exome sequencing and confirmation using Sanger sequencing revealed a homozygous pathogenic mutation in PKHD1 underlying the clinical phenotype of ARPKD. Whole-exome data analysis was used to search for additional rare variants in additional ciliopathy genes that may have contributed to the unusual brain phenotype. Aside from a rare hypomorphic allele in MKS1, no other pathogenic variants were detected.

Publication metadata

Author(s): Nabhan MM, Abdelaziz H, Xu Y, El Sayed R, Santibanez-Koref M, Soliman NA, Sayer JA

Publication type: Article

Publication status: Published

Journal: Genetics and Molecular Research

Year: 2015

Volume: 14

Issue: 2

Pages: 3618-3624

Online publication date: 17/04/2015

Acceptance date: 24/09/2014

Date deposited: 13/05/2015

ISSN (electronic): 1676-5680

Publisher: Fundacao de Pesquisas Cientificas de Ribeirao Preto

URL: http://dx.doi.org/10.4238/2015.April.17.11

DOI: 10.4238/2015.April.17.11

Altmetrics

Share