Gennero Isabelle, Edouard Thomas, Rashad Mona, Bieth Eric, Conte-Aurio Françoise, Marin Françoise, Tauber Maithé, Salles Jean Pierre, El Kholy Mohamed
Institut Fédératif de Biologie, Laboratoire de Biochimie, Toulouse, France.
J Pediatr Endocrinol Metab. 2007 Jul;20(7):825-31. doi: 10.1515/jpem.2007.20.7.825.
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.
生长激素受体（GHR）基因的缺失和突变是拉伦综合征（LS）或生长激素（GH）不敏感综合征（GHIS）的潜在病因，这是一种常染色体隐性疾病。大多数患者分布于或起源于地中海和中东国家。迄今为止已描述了60种突变。我们报告了1例LS患者GHR基因的一种新突变。第5外显子的基因组DNA测序显示，在密码子122后的核苷酸422处有一个TT插入。该插入导致移码，引入了一个过早的终止密码子，从而产生了一个截短的受体。我们提供了该纯合插入导致LS的临床、生化和分子证据。
