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- 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.
- Authors
Giabicani, Eloïse; Chantot-Bastaraud, Sandra; Bonnard, Adeline; Rachid, Myriam; Whalen, Sandra; Netchine, Irène; Brioude, Frédéric
- Abstract
We report an original association of complex genetic defects in a patient carrying both an 11p paternal duplication, resulting in the double expression of insulin-like growth factor 2 (IGF2) , as reported in Beckwith-Wiedemann syndrome, and a 15q terminal deletion, including the type 1 IGF receptor gene (IGF1R), 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.
- Subjects
TYPE 1 diabetes; SOMATOMEDIN; GENETIC disorders; SOMATOMEDIN A; PATHOLOGICAL physiology
- Publication
Frontiers in Endocrinology, 2019, pN.PAG
- ISSN
1664-2392
- Publication type
Article
- DOI
10.3389/fendo.2019.00263