Back to Search
Start Over
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.
- Source :
-
Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2019 Apr 30; Vol. 10, pp. 263. Date of Electronic Publication: 2019 Apr 30 (Print Publication: 2019). - Publication Year :
- 2019
-
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.
Details
- Language :
- English
- ISSN :
- 1664-2392
- Volume :
- 10
- Database :
- MEDLINE
- Journal :
- Frontiers in endocrinology
- Publication Type :
- Report
- Accession number :
- 31114545
- Full Text :
- https://doi.org/10.3389/fendo.2019.00263