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