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ey0021.4-4 | Important for Clinical Practice | ESPEYB21

4.4. Recombinant human insulin-like growth factor-1 treatment of severe growth failure in three siblings with STAT5B deficiency

G Muthuvel , SS Al Remeithi , C Foley , A Dauber , V Hwa , P Backeljauw

Brief Summary: This case series describes the effect of recombinant human IGF-1 (rhIGF-1) administration on growth of three siblings with STAT5B homozygous recessive mutations.The peripheral effects of GH are primarily mediated by IGF-I through the activation of the GH receptor (GHR)-signal transducer and activator of transcription (STAT)-5B signaling. Patients carrying STAT5B mutations have severe postnatal growth failure and IGF-I deficiency a...

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ey0016.4-9 | New Perspectives | ESPEYB16

4.9. Low IGF-I bioavailability impairs growth and glucose metabolism in a mouse model of human PAPPA2 p.Ala1033Val mutation

M Fujimoto , M Andrew , L Liao , D Zhang , G Yildirim , P Sluss , B Kalra , A Kumar , S Yakar , V Hwa , A Dauber

To read the full abstract: Endocrinology. 2019;160:13631376.Pregnancy-associated plasma protein A2 (PAPP-A2) is a metalloproteinase which, by cleaving IGFBP-3 and IGFBP-5, releases free IGF-I from the ternary complexes and regulates its bioavailability. PAPPA2 gene mutations (p.D643fs25* and p.Ala1033Val) have recently been described in various members of two unrelated fam...

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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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ey0015.4-12 | New mechanisms | ESPEYB15

4.12 Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations

M Gutiérrez , P Scaglia , A Keselman , L Martucci , L Karabatas , S Domené , A Martin , P Pennisi , M Blanco , N Sanguineti , L Bezrodnik , D Di Giovanni , MS Caldirola , ME Azcoiti , MI Gaillard , LA Denson , K Zhang , A Husami , NH Yayah Jones , V Hwa , S Revale , M Vázquez , H Jasper , A Kumar , H Domené

To read the full abstract: Mol Cell Endocrinol 2018; 15;473:166-177Signal transducers and activators of transcription (STAT) proteins are transcription factors transiently activated by different ligands such as cytokines, growth factors, or peptides, which trigger intracellular tyrosine phosphorylation along the JAK-STAT signaling pathway. Phosphorylated STAT induces...

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ESPE Yearbook of Paediatric Endocrinology

4.4. Recombinant human insulin-like growth factor-1 treatment of severe growth failure in three siblings with STAT5B deficiency

4.9. Low IGF-I bioavailability impairs growth and glucose metabolism in a mouse model of human PAPPA2 p.Ala1033Val mutation

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

4.12 Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations

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