Genetics and phenomics of hypothyroidism and thyroid dys- and agenesis due to PAX8 and TTF1 mutations

被引：52

作者：

Montanelli, Lucia ^{[1
]}

Tonacchera, Massimo ^{[1
]}

机构：

[1] Univ Pisa, Ctr Eccellenza AmbiSEN, Dipartimento Endocrinol & Metab, I-56124 Pisa, Italy

来源：

MOLECULAR AND CELLULAR ENDOCRINOLOGY | 2010年 / 322卷 / 1-2期

关键词：

Congenital hypothyroidism; PAX8; TTF1; Thyroid dysgenesis; Thyroid development; TRANSCRIPTION FACTOR-I; ENHANCER-BINDING PROTEIN; THYROTROPIN RECEPTOR GENE; AUTOSOMAL-DOMINANT TRANSMISSION; SODIUM/IODIDE SYMPORTER GENE; BENIGN HEREDITARY CHOREA; PAIRED BOX GENE; CONGENITAL HYPOTHYROIDISM; PEROXIDASE GENE; MOLECULAR-MECHANISMS;

D O I：

10.1016/j.mce.2010.03.009

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Thyroid dysgenesis (TD) is the most common cause of congenital hypothyroidism (CH), a relatively frequent endocrine disease in newborns (1 in 3000-4000 live births). TD is a defect in the organogenesis of the gland resulting in hypoplastic, ectopic or absent-thyroid gland. TD is usually sporadic but mutations in transcription factors (PAX8, TTF1, FOXE1 and NKX2-5) involved in thyroid development have been shown to cause a minority of cases transmitted as Mendelian diseases. This review focuses on the genetics and phenomics of hypothyroidism and TD due to PAX8 and TTF1 mutations. (C) 2010 Published by Elsevier Ireland Ltd.

引用

页码：64 / 71

页数：8

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