title: Classical phenotype of Laron syndrome in a girl with a heterozygous mutation and heterozygous polymorphism of the growth hormone receptor gene.
abstract: We describe here a 19 month-old girl with classical Laron syndrome (LS). Molecular analysis of the GH receptor gene in the patient and her parents was performed. The patient was found to be heterozygous for a mutation in exon 4 (R43X) and heterozygous for a polymorphism in exon 6 (Gly168Gly). Her mother was also heterozygous for R43X but homozygous for the polymorphism. In the father, a heterozygous polymorphism was found. Contrary to previous assumptions that only homozygous patients express the typical phenotype, this patient shows all the classical features of LS, despite being a heterozygote for a pathological defect.
authors.affiliation: Endocrinology and Diabetes Research Unit, Schneider Children's Medical Center, Petah Tikva, Israel.
authors.forename: Orit
authors.initials: O
authors.lastname: Shevah
authors.forename: Assimina
authors.initials: A
authors.lastname: Galli-Tsinopoulou
authors.forename: Menachem
authors.initials: M
authors.lastname: Rubinstein
authors.forename: Sanda
authors.initials: S
authors.lastname: Nousia-Arvanitakis
authors.forename: Zvi
authors.initials: Z
authors.lastname: Laron
mesh_terms: D005091:Exons / Q000235:genetics; D005183:Failure to Thrive / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods; D005820:Genetic Testing / Q000379:methods; D006579:Heterozygote; D006801:Humans; D007223:Infant; D009154:Mutation; D010641:Phenotype; D011110:Polymorphism, Genetic; D011986:Receptors, Somatotropin / Q000235:genetics* / Q000378:metabolism; D017422:Sequence Analysis, DNA
chemical_list: D011986:Receptors, Somatotropin