New genes and gene mutations

ey0015.5-3 | New genes and gene mutations | ESPEYB15

5.3 CYP3A4 mutation causes vitamin D-dependent rickets type 3

JD Roizen , D Li , L O'Lear , MK Javaid , NJ Shaw , PR Ebeling , HH Nguyen , CP Rodda , KE Thummel , TD Thacher , H Hakonarson , MA Levine

To read the full abstract: J Clin Invest 2018;128:1913-1918Two rare genetic forms of vitamin D–dependent rickets exist: VDDR-1 caused by mutations in the genes encoding either the renal 1-α hydroxylase (CYP27B1: VDDR-1A) or the hepatic 25-hydroxylase (CYP2R1: VDDR-1B) and VDDR-2 caused by mutations in the vitamin D receptor signalling due to mutations in the gene encoding the ...

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ey0015.5-4 | New genes and gene mutations | ESPEYB15

5.4 Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

T Cundy , M Dray , J Delahunt , JD Hald , B Langdahl , C Li , M Szybowska , S Mohammed , EL Duncan , AM McInerney-Leo , PG Wheeler , P Roschger , K Klaushofer , J Rai , M Weis , D Eyre , U Schwarze , PH Byers

To read the full abstract: J Bone Miner Res 2018;33(7):1260-1271Osteogenesis imperfecta (OI) is characterized by early-onset skeletal fragility, often short stature, blue sclerae and some other features. OI is caused by mutations in the two genes encoding type I collagen, namely COL1A1 and COL1A2. Some previous reports have indicated that when the mutation involves the C-propeptide cleavage site in e...

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ey0015.5-5 | New genes and gene mutations | ESPEYB15

5.5 Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation

C Tatsi , A Gkourogianni , K Mohnike , D DeArment , S Witchel , AC Andrade , TC Markello , J Baron , O Nilsson , YH Jee

To read the full abstract: J Endocr Soc 2017;1:1006-1011Besides its structural role in the extracellular matrix, aggrecan orchestrates a plethora of key mechanisms in endochondral ossification, such as embryonic morphogen distribution, regular indian hedgehog (IHH) / Sox9 expression and columnar chondrocyte orientation. Thus, homozygous loss-of-function mutations in the ACAN gene, encoding...

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ESPE Yearbook of Paediatric Endocrinology

Yearbook of Paediatric Endocrinology 2018

5 Bone, Growth Plate and Mineral Metabolism

5.3 CYP3A4 mutation causes vitamin D-dependent rickets type 3

5.4 Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

5.5 Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation

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