[GH receptor gene mutations and growth failure].
Abnormality of growth hormone (GH) receptor (GHR) and signal transduction system is a cause of primary GH insensitivity. Analysis of GHR gene have shown so far about 30 different kinds of mainly homozygous mutations in patients with Laron syndrome and heterozygous mutations in some patients with idiopathic short stature. In this paper, we review these diverse clinical and molecular characteristics of abnormal GHR gene in patients with GH insensitivity including our patient of Laron syndrome caused by novel compound heterozygous mutations and of familial short stature with high serum GHBP levels caused by a heterozygous splice site mutation of the GHR gene producing a lack of cytoplasmic domain.
Department of Medicine, Kobe University School of Medicine.
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Kaji
D005838:Genotype; D006130:Growth Disorders / Q000209:etiology; D006801:Humans; D009154:Mutation; D011986:Receptors, Somatotropin / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D015398:Signal Transduction; D013577:Syndrome
D011986:Receptors, Somatotropin