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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.


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.

SUBMITTER: Giabicani E 

PROVIDER: S-EPMC6503735 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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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.

Giabicani Eloïse E   Chantot-Bastaraud Sandra S   Bonnard Adeline A   Rachid Myriam M   Whalen Sandra S   Netchine Irène I   Brioude Frédéric F  

Frontiers in endocrinology 20190430


We report an original association of complex genetic defects in a patient carrying both an 11p paternal duplication, resulting in the double expression of <i>insulin-like growth factor 2 (IGF2)</i>, as reported in Beckwith-Wiedemann syndrome, and a 15q terminal deletion, including the <i>type 1 IGF receptor gene</i> (<i>IGF1R</i>), resulting in haploinsufficiency for this gene. The patient was born with measurements appropriate for her gestational age but experienced growth retardation in early  ...[more]

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