ATR-16 syndrome: mechanisms linking monosomy to phenotype.

Christian BabbsJill BrownSharon W HorsleyJoanne SlaterEvie MaifoshieShiwangini KumarPaul OoijevaarMarjolein KriekAmanda Dixon-McIverCornelis L HarteveldJan Traeger-SynodinosAndrew O M WilkieDouglas R HiggsVeronica J Buckle

Published in: Journal of medical genetics (2020)

Using ATR-16 as a general model of disorders caused by CNVs, we show the degree to which individuals with contiguous gene syndromes are affected is not simply related to the number of genes deleted but depends on their genetic background. We also show there is no critical region defining the degree of phenotypic abnormalities in ATR-16 syndrome and this has important implications for genetic counselling.

Keyphrases

genome wide
dna damage response
copy number
dna methylation
case report
genome wide identification
smoking cessation
oxidative stress
gene expression
dna damage
genome wide analysis
hiv testing