Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?

doi:10.1101/mcs.a002899

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Article

Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?

Cold Spring Harbor molecular case studies - 1 Aug 2018

Polonis Katarzyna, Blackburn Patrick R, Urrutia Raul A, Lomberk Gwen A, Kruisselbrink Teresa, Cousin Margot A, Boczek Nicole J, Hoppman Nicole L, Babovic-Vuksanovic Dusica, Klee Eric W, Pichurin Pavel N

Abstract excerpt

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 EZH2 and NSD1, which cause Weaver and Sotos syndrome, respectively, and the DNA methyltransferase (DNMT3A) gene...

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PMID: 29802153
DOI: 10.1101/mcs.a002899
PMCID: PMC6071565

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NSD1

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Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?PMID 29802153Read ↗

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