title: Genetic analysis of the pedigrees and molecular defects of the GH-receptor gene in the Israeli cohort of patients with Laron syndrome.
abstract: Out of the 63 patients with Laron Syndrome ( LS) followed in our clinic we were able to perform a genetic analysis on 43 patients belonging to 28 families. Twenty-seven patients were Jews, eight were Arabs, one was Druze, and six were Caucasians from countries other then Israel. Consanguinity was found in 11 families. Molecular analysis of the growth hormone receptor gene was performed in 32 patients and 32 family members. From the study of the pedigrees, as well as the GH receptor gene analysis, we confirmed an earlier report from our group that LS is a recessively inherited disease. One patient with a classical phenotype of LS had a non-classical pattern of inheritance: R43X heterozygosity together with a heterozygous polymorphism G168G; a condition which needs further exploration.
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: Zvi
authors.initials: Z
authors.lastname: Laron
mesh_terms: D015331:Cohort Studies; D005260:Female; D006579:Heterozygote; D006801:Humans; D040582:Inheritance Patterns; D007557:Israel; D046150:Laron Syndrome / Q000208:ethnology / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic; D011986:Receptors, Somatotropin / Q000235:genetics*
chemical_list: D011986:Receptors, Somatotropin