Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.

Tamás SzabóPetronella OroszEszter BaloghEszter JávorszkyIstván MáttyusCsaba BereczkiZoltán MarótiTibor KalmárAttila J SzabóGeorge ReuszIldikó VárkonyiErzsébet MariánÉva GombosOrsolya OroszLászló MadarGyörgy BallaJános KappelmayerKálmán ToryIstván Balogh

Published in: Pediatric nephrology (Berlin, Germany) (2018)

We found all ARPKD cases without PKHD1 point mutations to be phenocopies, and none to be explained by biallelic PKHD1 copy number variations. Screening for copy number variations is recommended in patients with a heterozygous point mutation.

Keyphrases

copy number
genome wide
mitochondrial dna
dna methylation
young adults
early onset
intellectual disability
autism spectrum disorder