DE-NOVO MUTATIONS OF THE GROWTH-HORMONE GENE - AN IMPORTANT CAUSE OF CONGENITAL ISOLATED GROWTH-HORMONE DEFICIENCY

A family with isolated growth hormone deficiency (IGHD) in two childre n and their mother is reported. Genetic analysis revealed a heterozygo us splice site mutation in intron III of the GH-I gene. This mutation was de novo in the mother and was transmitted in a dominant way to her offspring. Conclusion De novo mutations in the GH-1 gene may be an im portant cause of congenital idiopathic IGHD. As these patients have no rmal fertility, pointing out this mutation is of great value for appro priate genetic counselling in patients with idiopathic IGHD.