Department of Endocrinology and Molecular and Clincal Oncology, Federico II Univerity of Naples, Naples - Italy.
J Endocrinol Invest. 2011 Jul-Aug;34(7):e149-52. doi: 10.3275/7331. Epub 2010 Nov 8.
Congenital hypothyroidism (CH) is a common endocrine disorder with an incidence of 1:3000- 4000 newborns. In 80-85% of cases, CH is caused by defects in thyroid organogenesis, resulting in absent, ectopically located, and/or severely reduced gland, all conditions indicated as "thyroid dysgenesis" (TD). A higher prevalence of congenital heart diseases has been documented in children with CH compared to the general population. This association suggests a possible pathogenic role of genes involved in both heart and thyroid development. Among these, it can be included Isl1, a transcription factor containing a LIM homeodomain that is expressed in both thyroid and heart during morphogenesis.
In the present study, we investigate the role of ISL1 in the pathogenesis of TD.
By single stranded conformational polymorphism, we screened for mutations the entire ISL1 coding sequence in 96 patients with TD and in 96 normal controls.
No mutations have been found in patients and controls.
Our data indicate that, despite the relevant role of ISL1 in thyroid and heart morphogenesis, mutations in its coding region are not associated with TD in our group of patients.
先天性甲状腺功能减退症（CH）是一种常见的内分泌疾病，新生儿发病率为 1/3000-4000。在 80-85%的病例中，CH 是由甲状腺发生缺陷引起的，导致甲状腺缺失、异位和/或严重减少，所有这些情况都被称为“甲状腺发育不良”（TD）。与普通人群相比，CH 患儿先天性心脏病的患病率更高。这种关联表明，心脏和甲状腺发育过程中涉及的基因可能具有潜在的致病作用。其中，包含 LIM 同源域的转录因子 Isl1 可以被包括在内，该因子在形态发生过程中均在甲状腺和心脏中表达。
本研究旨在探讨 ISL1 在 TD 发病机制中的作用。
通过单链构象多态性，我们对 96 例 TD 患者和 96 名正常对照者的 ISL1 编码序列进行了突变筛查。
在患者和对照组中均未发现突变。
我们的数据表明，尽管 ISL1 在甲状腺和心脏形态发生中具有重要作用，但在我们的患者群体中，其编码区的突变与 TD 无关。
