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Giabicani, Eloïse; Chantot-Bastaraud, Sandra; Bonnard, Adeline; Rachid, Myriam; Whalen, Sandra; Netchine, Irène; Brioude, Frédéric
Frontiers in endocrinology (Lausanne), 04/2019, Letnik: 10Journal Article
We report an original association of complex genetic defects in a patient carrying both an 11p paternal duplication, resulting in the double expression of , as reported in Beckwith-Wiedemann syndrome, and a 15q terminal deletion, including the ( ), 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.
