hrp0082p3-d1-811 | Growth | ESPE2014

A Novel GHR Mutation, c.439+1g>a; in a Family with Laron Syndrome

Attia Mona , Abeer Atef , Makarem Ibrahim , Donaldson Malcolm , Metherell Lou , Tawfik Sameh , Dowedar Wafaa

Background: Mutations in the human GH receptor gene (GHR) are the most common cause of GH insensitivity (GHI) syndrome and IGF1 deficiency. The extracellular domain of GHR (encoded by exons 2–7 of the GHR gene) can be proteolytically cleaved to circulate as GH-binding protein.Objective: To evaluate the cause of classical GHI (Laron) phenotypes in two siblings and their parents.Method: We observed clinical characteristics of tw...