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ey0016.5-7 | New Insight into Rare Skeletal Disorders | ESPEYB16

5.7. Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

P Heyn , CV Logan , A Fluteau , RC Challis , T Auchynnikava , CA Martin , JA Marsh , F Taglini , F Kilanowski , DA Parry , V Cormier-Daire , CT Fong , K Gibson , V Hwa , L Ibanez , SP Robertson , G Sebastiani , J Rappsilber , RC Allshire , MAM Reijns , A Dauber , D Sproul , AP Jackson

Abstract Link: Nat Genet. 2019 Jan;51(1):96105.In brief: Gain-of-function mutations altering DNMT3A are identified as a new cause of microcephalic dwarfism. Modelling of the disease in mice show that the mutations abrogate DNMT3A binding to H3K36me2 and H3K36me3 and lead to aberrant DNA methylation of Polycomb-marked regions and therefore repression ...

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ey0020.3-8 | Advances in Clinical Practice | ESPEYB20

3.8. Nosology of genetic skeletal disorders: 2023 revision

S Unger , CR Ferreira , GR Mortier , H Ali , DR Bertola , A Calder , DH Cohn , V Cormier-Daire , KM Girisha , C Hall , D Krakow , O Makitie , S Mundlos , G Nishimura , SP Robertson , R Savarirayan , D Sillence , M Simon , VR Sutton , ML Warman , A Superti-Furga

In Brief: The 11th edition of the Nosology is significantly expanded, now covering 771 conditions linked to 552 genes. In a major shift from previous editions, it has adopted a dyadic naming system that defines disorders based on both their phenotypic and genetic features. It continues to be a vital tool for diagnosing and communicating about genetic skeletal disorders.Commentary: The first Nosology of genetic skeletal disorders was published...

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ESPE Yearbook of Paediatric Endocrinology

5.7. Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

3.8. Nosology of genetic skeletal disorders: 2023 revision

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