Identification of a novel mutation in the human growth hormone receptor gene (GHR) in a patient with Laron syndrome.
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.
Gennero
Isabelle
I
Institut Fédératif de Biologie, Laboratoire de Biochimie, Toulouse, France. gennero.i@chu-toulouse.fr
Edouard
Thomas
T
Rashad
Mona
M
Bieth
Eric
E
Conte-Aurio
Françoise
F
Marin
Françoise
F
Tauber
Maithé
M
Salles
Jean Pierre
JP
El Kholy
Mohamed
M
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*
D011986:Receptors, Somatotropin; D007334:Insulin-Like Growth Factor I; D013006:Growth Hormone; D004247:DNA