A Novel Frame Shift Mutation in the GHRH Receptor Gene in Familial Isolated GH Deficiency: Early Occurrence of Anterior Pituitary Hypoplasia

摘要: Background: Mutations in the genes encoding for GHRH receptor (GHRHR) and GH (GH1) are most common cause of familial isolated deficiency (IGHD). GHRHR mutations often associated with anterior pituitary hypoplasia (APH), but this has been reported almost exclusively children older than 8 yr. We analyzed measured size a consanguineous family father three five siblings IGHD. Objective: The aim study was to find mutated gene severe Methods: sequenced whole coding regions intron-exon boundaries from peripheral DNA index patient. After identifying novel mutation, we region interest other members family. volume magnetic resonance imaging (MRI). Results: affected were homozygous new frame-shift mutation sequence exon 4 (corresponding extracellular dom...