Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency

被引：6

作者：

Cruz, Juliana B. ^{[1
]}

Nunes, Vania S. ^{[1
]}

Clara, Sueli A. ^{[1
]}

Perone, Denise ^{[1
]}

Kopp, Peter ^{[2
]}

Nogueira, Celia P. ^{[1
]}

机构：

[1] Univ Estadual Paulista, Fac Med, Dept Clin Med, Disciplina Endocrinol & Metabol, Sao Paulo, Brazil

[2] Northwestern Univ, Div Endocrinol Metabol & Med Mol, Chicago, IL 60611 USA

来源：

ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA | 2010年 / 54卷 / 05期

关键词：

DNA mutational analysis; septo-optic dysplasia; pituitary hormonal deficiency; ANTERIOR-PITUITARY; MUTATIONS; DISORDERS; FREQUENCY; FORMS; LHX4; CPHD;

D O I：

10.1590/S0004-27302010000500009

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Objective: 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. Subjects and methods: In all patients, the HESX1 gene was analyzed by direct sequence analysis and in cases of CPHD the PROP1 gene was also sequenced. Results: A polymorphism (1772 A>G; N125S) was identified in a patient with SOD. We found three patients carrying the allelic variants 27T>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. Conclusion: Genetic alterations in one or several other genes, or non-genetic mechanisms, must be implicated in the pathogenic process. Arq Bras Endocrinol Metab. 2010;54(5):482-7

引用

页码：482 / 487

页数：6

共 21 条

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