Cruz Juliana B, Nunes Vania S, Clara Sueli A, Perone Denise, Kopp Peter, Nogueira Célia R
Universidade Estadual Paulista, Departamento de Clínica Médica, Botucatu, São Paulo, SP, Brazil.
Arq Bras Endocrinol Metabol. 2010;54(5):482-7. doi: 10.1590/s0004-27302010000500009.
The present study aimed at evaluating the PROP1 and HESX1 genes in a group of patients with septo-optic dysplasia (SOD) and pituitary hormone deficiency (combined - CPHD; isolated GH deficiency - GHD). Eleven patients with a clinical and biochemical presentation consistent with CPHD, GHD or SOD were evaluated.
In all patients, the HESX1 gene was analyzed by direct sequence analysis and in cases of CPHD the PROP1 gene was also sequenced.
A polymorphism (1772 A > G; N125S) was identified in a patient with SOD. We found three patients carrying the allelic variants 27 T > C; A9A and 59 A > G; N20S in exon 1 of the PROP1 gene. Mutations in the PROP1 and HESX1 genes were not identified in these patients with sporadic GHD, CPHD and SOD.
Genetic alterations in one or several other genes, or non-genetic mechanisms, must be implicated in the pathogenic process.
本研究旨在评估一组患有视隔发育不良（SOD）和垂体激素缺乏症（联合型 - CPHD；孤立性生长激素缺乏症 - GHD）患者的PROP1和HESX1基因。对11例临床和生化表现符合CPHD、GHD或SOD的患者进行了评估。
对所有患者进行HESX1基因直接测序分析，对于CPHD患者还对PROP1基因进行测序。
在1例SOD患者中鉴定出一种多态性（1772 A>G；N125S）。我们发现3例患者在PROP1基因第1外显子中携带等位基因变异27 T>C；A9A和59 A>G；N20S。在这些散发型GHD、CPHD和SOD患者中未鉴定出PROP1和HESX1基因的突变。
致病过程中必定涉及一个或多个其他基因的遗传改变或非遗传机制。
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