PDF(Pubmed)
Abstract：
Allan-Herndon-Dudley\'s syndrome (AHDS) is a rare X-linked recessive disease that causes abnormal serum thyroid function tests, severe hypotonia, intellectual disability, and motor deficit due to a mutation in the monocarboxylate transporter 8, which is a thyroid hormone transporter. A 6-month-old male patient presented to our outpatient clinic with a serious hypotonia complaint. With a preliminary diagnosis of AHDS, a molecular genetic examination was performed. The molecular genetic analysis detected a new previously unidentified variant in the SLC16A2 gene. This case has been presented to report the AHDS, which is a rare cause of hypotonia in patients presenting/consulting with severe hypotonia, global developmental delay, and abnormal thyroid function test results. Besides, a novel pathogenic mutation in the SLC16A2 gene has been described in the present article.
摘要：
Allan-Herndon-Dudley综合征（AHDS）是一种罕见的X连锁隐性疾病，可导致血清甲状腺功能检查异常，严重的低张力,智力残疾,和运动缺陷由于单羧酸转运蛋白8的突变，这是一种甲状腺激素转运蛋白。一名6个月大的男性患者出现严重的低张力症投诉到我们的门诊诊所就诊。随着AHDS的初步诊断，进行了分子遗传学检查。分子遗传分析在SLC16A2基因中检测到一个新的以前未鉴定的变异体。这个案例已经提交给AHDS报告，这是一个罕见的低张力患者表现/咨询严重低张力的原因，全球发育迟缓，和异常的甲状腺功能测试结果。此外,本文描述了SLC16A2基因中的一个新的致病突变。
