Article
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
PLoS genetics - 1 May 2018
Gonçalves Sara, Patat Julie, Guida Maria Clara, Lachaussée Noelle, Arrondel Christelle, Helmstädter Martin, Boyer Olivia, Gribouval Olivier, Gubler Marie-Claire, Mollet Geraldine, Rio Marlène, Charbit Marina, Bole-Feysot Christine, Nitschke Patrick, Huber Tobias B, Wheeler Patricia G, Haynes Devon, Juusola Jane, Billette de Villemeur Thierry, Nava Caroline, Afenjar Alexandra, Keren Boris, Bodmer Rolf, Antignac Corinne, Simons Matias
Abstract excerpt
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,...
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