title: Identification of a novel mutation in the human growth hormone receptor gene (GHR) in a patient with Laron syndrome.
abstract: Deletions and mutations in the growth hormone receptor (GHR) gene are the underlying etiology of Laron syndrome (LS) or growth hormone (GH) insensitivity syndrome (GHIS), an autosomal recessive disease. Most patients are distributed in or originate from Mediterranean and Middle-Eastern countries. Sixty mutations have been described so far. We report a novel mutation in the GHR gene in a patient with LS. Genomic DNA sequencing of exon 5 revealed a TT insertion at nucleotide 422 after codon 122. The insertion resulted in a frameshift introducing a premature termination codon that led to a truncated receptor. We present clinical, biochemical and molecular evidence of LS as the result of this homozygous insertion.
authors.affiliation: Institut Fédératif de Biologie, Laboratoire de Biochimie, Toulouse, France. gennero.i@chu-toulouse.fr
authors.forename: Isabelle
authors.initials: I
authors.lastname: Gennero
authors.forename: Thomas
authors.initials: T
authors.lastname: Edouard
authors.forename: Mona
authors.initials: M
authors.lastname: Rashad
authors.forename: Eric
authors.initials: E
authors.lastname: Bieth
authors.forename: Françoise
authors.initials: F
authors.lastname: Conte-Aurio
authors.forename: Françoise
authors.initials: F
authors.lastname: Marin
authors.forename: Maithé
authors.initials: M
authors.lastname: Tauber
authors.forename: Jean Pierre
authors.initials: JP
authors.lastname: Salles
authors.forename: Mohamed
authors.initials: M
authors.lastname: El Kholy
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004587:Electrophoresis, Agar Gel; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D014644:Genetic Variation; D013006:Growth Hormone / Q000097:blood; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000378:metabolism; D046150:Laron Syndrome / Q000097:blood / Q000235:genetics* / Q000628:therapy; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011986:Receptors, Somatotropin / Q000235:genetics*
chemical_list: D011986:Receptors, Somatotropin; D007334:Insulin-Like Growth Factor I; D013006:Growth Hormone; D004247:DNA