A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

ABSTRACT: Recent evidence suggests that the presence of more than one pathogenic mutation in a single patient is more common than previously anticipated. One of the challenges hereby is to dissect the contribution of each gene mutation, for which animal models such as Drosophila can provide a valuable aid. Here, we identified three families with mutations in ADD3, encoding for adducin-γ, with intellectual disability, microcephaly, cataracts and skeletal defects. In one of the families with additional cardiomyopathy and steroid-resistant nephrotic syndrome (SRNS), we found a homozygous variant in KAT2B, encoding the lysine acetyltransferase 2B, with impact on KAT2B protein levels in patient fibroblasts, suggesting that this second mutation might contribute to the increased disease spectrum. In order

SUBMITTER: Goncalves S 

PROVIDER: S-EPMC5973622 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature