Previous issue | Volume 86 | ESPE2016 | Next issue

55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

Card image cap
Paris, France: 10-12 September 2016 Further information

Free Communications

Growth : Mechanisms

hrp0086fc14.1 | Growth : Mechanisms | ESPE2016

Clinical Characterization of Children with Autosomal Dominant Short Stature due to Aggrecan Mutations Broadens the Phenotypic Spectrum

Gkourogianni Alexandra , Andrew Melissa , Crocker Melissa , Dunbar Nancy , Jorge Alexander , Lafranchi Stephen , Lalani Seema , Lebl Jan , Lin Lynda , Los Evan , Newbern Dorothee , Nowak Catherine , Olson Micah , Popovic Jadranka , Pruhova Stepanka , Quintos Jose Bernardo , Sentchordi Lucia , Baron Jeffrey , Nilsson Ola , Dauber Andrew

Background: Heterozygous mutations in the Aggrecan gene (ACAN) cause autosomal dominant short stature with bone age (BA) acceleration, and premature growth cessation.Objective and methods: To characterize the phenotypic spectrum, associated conditions and describe response to growth-promoting therapies, detailed clinical evaluation of 73 mutation positive individuals from 16 families different families with heterozygous ACAN mutations was perfor...

hrp0086fc14.2 | Growth : Mechanisms | ESPE2016

CG Methylation at the IGF1 P2 Promoter is a Major Epigenetic Determinant of Postnatal, Not Foetal Growth

Ouni Myriam , Le Stunff Catherine , Castell Anne Laure , Bougneres Pierre

Background: The height of children has a Gaussian distribution. Genetics explain an important part of individual variability, but no single genomic variant accounts for more than 0.3% of height variance. At the interface of genetics and environment, epigenetics is expected to contribute to phenotypic variability. IGF1 is an attractive locus to test this hypothesis.Objectives: To quantify the effect of CG methylation of IGF1 promoters on height.<p cla...

hrp0086fc14.3 | Growth : Mechanisms | ESPE2016

CG at the Methylation IGF1 Locus is an Epigenetic Predictor of GH Sensitivity

Ouni Myriam , Castell Anne Laure , Bougneres Pierre

Background: The growth and IGF1 responses to GH treatment show a large variation across children with idiopathic short stature (ISS). Compliance and GH regimens are important determinants. The d3 variant of the GH receptor (GHR) is a significant genetic predictor. The role of individual epigenetics had not been studied. The IGF1 locus is an attractive candidate where CG methylation could influence GH action.Objectives: To study GH effects on a) IGF1 gene...

hrp0086fc14.4 | Growth : Mechanisms | ESPE2016

Preferential Paternal Transmission of the T Allele for the rs1802710 Polymorphism In Dlk1 Gene as a Pre- and Postnatal Growth Regulator

Prats-Puig Anna , Carreras-Badosa Gemma , Xargay-Torrent Silvia , Petry Clive J , Redondo-Bautista Lara , de Zegher Francis , Bassols Judit , Ibanez Lourdes , Dunger David B , Lopez-Bermejo Abel

Background: DLK1 or PREF1 is an imprinted gene highly expressed from the paternal allele in embryonic tissues and placenta. It has been recently implicated in adipose tissue expansion and diabetes development. The human rs1802710 polymorphism (SNP) in DLK1 gene has been associated with early-onset extreme obesity but its role determining growth is unknown.Objective and hypotheses: To study the preferential paternal transmission...

hrp0086fc14.5 | Growth : Mechanisms | ESPE2016

Preferential Transmission of the Paternal C Allele of the rs9373409 Polymorphism in plagl1 Gene as a Regulator of Fetal Growth and Maternal Metabolism

Prats-Puig Anna , Carreras-Badosa Gemma , Diaz-Roldan Ferran , Petry Clive J , Maldonado-Moreno Clara , de Zegher Francis , Bassols Judit , Ibanez Lourdes , Dunger David B , Lopez-Bermejo Abel

Background: The phenotypic effects of single nucleotide polymorphisms (SNPs) may depend on their parental origin. PLAGL1 is an imprinted gene expressed from the paternal allele in placenta that is associated with fetal growth, transient neonatal diabetes mellitus and postnatal growth disorders. The mechanisms whereby PLAG1 regulates fetal growth are, however, unknown.Objective and hypotheses: To study if the preferential paternal transm...

hrp0086fc14.6 | Growth : Mechanisms | ESPE2016

In vitro and in vivo Evidence for a Growth Inhibitory Role of the Transcription Factor ZBTB38 Throughout Pre- and Post-Natal Life

Parsons Sam , Stevens Adam , Whatmore Andrew , Murray Philip , Clayton Peter

Background: Single nucleotide polymorphisms (SNPs) within the promotor and 5Â’UTR of the transcriptional factor, ZBTB38, are associated with adult height and idiopathic short stature although their precise auxological effects have not previously been described. In addition, the molecular mechanisms through which ZBTB38 affects growth have not been fully elucidated but potential downstream mediators are suggested to include MCM10 or IGF2.Objectives: <...