biostudies-literaturePolonis KNIDDK NIH HHSa002899https://www.ebi.ac.uk/biostudies/studies/S-EPMC6071565biostudies-literatureUnknown4(4)Overgrowth syndromes are a clinically heterogeneous group of disorders characterized by localized or generalized tissue overgrowth and varying degrees of developmental and intellectual disability. An expanding list of genes associated with overgrowth syndromes include the histone methyltransferase genes <i>EZH2</i> and <i>NSD1</i>, which cause Weaver and Sotos syndrome, respectively, and the DNA methyltransferase (<i>DNMT3A</i>) gene that results in Tatton-Brown-Rahman syndrome (TBRS). Here, we describe a 5-year-old female with a paternally inherited pathogenic mutation in <i>EZH2</i> (c.2050C>T, p.Arg684Cys) and a maternally inherited 505-kb duplication of uncertain significance at 2p23.3 (encompassing five genes, including <i>DNMT3A</i>) who presented with intrauterine growth restrictionCold Spring Harbor molecular case studiesCo-occurrence of a maternally inherited <i>DNMT3A</i> duplication and a paternally inherited pathogenic variant in <i>EZH2</i> in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a <i>DNMT3A</i> dosage effect?PMC6071565R01 DK052913Hoppman NLKruisselbrink TUrrutia RABlackburn PRLomberk GACousin MAPichurin PNBoczek NJKlee EWPolonis KBabovic-Vuksanovic DfalseCo-occurrence of a maternally inherited <i>DNMT3A</i> duplication and a paternally inherited pathogenic variant in <i>EZH2</i> in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a <i>DNMT3A</i> dosage effect?Overgrowth syndromes are a clinically heterogeneous group of disorders characterized by localized or generalized tissue overgrowth and varying degrees of developmental and intellectual disability. An expanding list of genes associated with overgrowth syndromes include the histone methyltransferase genes <i>EZH2</i> and <i>NSD1</i>, which cause Weaver and Sotos syndrome, respectively, and the DNA methyltransferase (<i>DNMT3A</i>) gene that results in Tatton-Brown-Rahman syndrome (TBRS). Here, we describe a 5-year-old female with a paternally inherited pathogenic mutation in <i>EZH2</i> (c.2050C>T, p.Arg684Cys) and a maternally inherited 505-kb duplication of uncertain significance at 2p23.3 (encompassing five genes, including <i>DNMT3A</i>) who presented with intrauterine growth restriction2018-01-01T00:00:00Z2018 Aug2026-04-30T22:51:13.547Z2019-03-26T23:50:47ZS-EPMC60715652980215310.1101/mcs.a002899