AUTHOR=Giabicani Eloïse , Chantot-Bastaraud Sandra , Bonnard Adeline , Rachid Myriam , Whalen Sandra , Netchine Irène , Brioude Frédéric 

TITLE=Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion

JOURNAL=Frontiers in Endocrinology

VOLUME=10

YEAR=2019

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2019.00263

DOI=10.3389/fendo.2019.00263

ISSN=1664-2392

ABSTRACT=<p>We report an original association of complex genetic defects in a patient carrying both an 11p paternal duplication, resulting in the double expression of <italic>insulin-like growth factor 2 (IGF2)</italic>, as reported in Beckwith-Wiedemann syndrome, and a 15q terminal deletion, including the <italic>type 1 IGF receptor gene</italic> (<italic>IGF1R</italic>), resulting in haploinsufficiency for this gene. The patient was born with measurements appropriate for her gestational age but experienced growth retardation in early childhood, allowing a better comprehension of the IGF system in the pathophysiology of growth. It is possible that IGF-II plays a key role in fetal growth, independently of IGF1R signaling, and that its role is less important in post-natal growth, leaving IGF-I and growth hormone as the main actors.</p>