New Insight into Rare Skeletal Disorders

ey0016.5-4 | New Insight into Rare Skeletal Disorders | ESPEYB16

5.4. Vitamin D-binding protein deficiency and homozygous deletion of the GC gene

CM Henderson , SL Fink , H Bassyouni , B Argiropoulos , L Brown , TJ Laha , KJ Jackson , R Lewkonia , P Ferreira , AN Hoofnagle , JL Marcadier

Abstract: N Engl J Med. 2019;380(12):11501157. PMID: 30893535.In brief: Homozygous deletion of the group-specific component (GC) gene that encodes for vitamin Dbinding protein causes persistently low measurable 25-hydroxy Vitamin D concentrations with no clinical features of rickets or osteomalacia.Comment: Vitamin D and ...

0 shares

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

5.5. Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

M Pekkinen , PA Terhal , LD Botto , P Henning , RE Makitie , P Roschger , A Jain , M Kol , MA Kjellberg , EP Paschalis , K van Gassen , M Murray , P Bayrak-Toydemir , MK Magnusson , J Jans , M Kausar , JC Carey , P Somerharju , UH Lerner , VM Olkkonen , K Klaushofer , JC Holthuis , O Makitie

Abstract: JCI Insight. 2019; Apr 4;4(7).In brief: This study describes a novel autosomal dominant form of primary osteoporosis caused by SGMS2 mutations in six families. A recurrent mutation p.Arg50* led to primary osteoporosis in four families, whereas missense mutations p.Ile62Ser and p.Met64Arg caused a much more severe bone phenotype with spondylometaphyseal d...

0 shares

ey0016.5-6 | New Insight into Rare Skeletal Disorders | ESPEYB16

5.6. Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

G Grigelioniene , HI Suzuki , F Taylan , F Mirzamohammadi , ZU Borochowitz , UM Ayturk , S Tzur , E Horemuzova , A Lindstrand , MA Weis , G Grigelionis , A Hammarsjo , E Marsk , A Nordgren , M Nordenskjold , DR Eyre , ML Warman , G Nishimura , PA Sharp , T Kobayashi

Abstract: Nat Med. 2019 Apr;25(4):583590. PMID: 30804514In brief: This study describes the first skeletal dysplasia caused by a mutation in a microRNA that is not simply inactivating, but modifies the repertoire of target genes.Comment: MicroRNAs (miRNAs) are small (2024 nucleotides) noncoding RNA molecules that post-transcriptio...

0 shares

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 ...

0 shares

ESPE Yearbook of Paediatric Endocrinology

Yearbook of Paediatric Endocrinology 2019

5. Bone, Growth Plate and Mineral Metabolism

5.4. Vitamin D-binding protein deficiency and homozygous deletion of the GC gene

5.5. Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

5.6. Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

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

BiosciAbstracts