Arvio Maria, Philips Anju K, Ahvenainen Minna, Somer Mirja, Kalscheuer Vera, Järvelä Irma
Päijät-Hämeen sosiaali- ja terveydenhuollon kuntayhtymä.
Duodecim. 2014;130(21):2202-5.
Normal function of the thyroid gland is the cornerstone of a child's mental development and physical growth. We describe a Finnish family, in which the diagnosis of three brothers became clear after investigations that lasted for more than 30 years. Two of the sons have already died. DNA analysis of the third one, a 16-year-old boy, revealed in exome sequencing of the complete X chromosome a mutation in the SLC16A2 gene, i.e. MCT8, coding for a thyroid hormone transport protein. Allan-Herndon-Dudley syndrome was thus shown to be the cause of multiple disabilities.
甲状腺的正常功能是儿童智力发育和身体成长的基石。我们描述了一个芬兰家庭，经过长达30多年的调查后，三个兄弟的诊断得以明确。其中两个儿子已经去世。对第三个儿子（一名16岁男孩）的DNA分析显示，在完整X染色体的外显子组测序中，编码甲状腺激素转运蛋白的SLC16A2基因（即MCT8）发生了突变。由此证明，艾伦 - 赫恩登 - 达德利综合征是导致多种残疾的原因。
