Article
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
Nature genetics - 1 Apr 2014
Tatton-Brown Katrina, Seal Sheila, Ruark Elise, Harmer Jenny, Ramsay Emma, Del Vecchio Duarte Silvana, Zachariou Anna, Hanks Sandra, O'Brien Eleanor, Aksglaede Lise, Baralle Diana, Dabir Tabib, Gener Blanca, Goudie David, Homfray Tessa, Kumar Ajith, Pilz Daniela T, Selicorni Angelo, Temple I Karen, Van Maldergem Lionel, Yachelevich Naomi, van Montfort Robert, Rahman Nazneen
Abstract excerpt
Overgrowth disorders are a heterogeneous group of conditions characterized by increased growth parameters and other variable clinical features such as intellectual disability and facial dysmorphism. To identify new causes of human overgrowth, we performed exome sequencing in ten proband-parent trios and detected two de novo DNMT3A mutations. We identified 11 additional de novo mutations by sequencing DNMT3A in a...
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