Matsuo Kumihiro, Tanahashi Yusuke, Mukai Tokuo, Suzuki Shigeru, Tajima Toshihiro, Azuma Hiroshi, Fujieda Kenji
J Pediatr Endocrinol Metab. 2016 Jul 1;29(7):807-12. doi: 10.1515/jpem-2015-0400.
Dual oxidase 2 (DUOX2) mutations are a cause of dyshormonogenesis (DH) and have been identified in patients with permanent congenital hypothyroidism (PH) and with transient hypothyroidism (TH). We aimed to elucidate the prevalence and phenotypical variations of DUOX2 mutations.
Forty-eight Japanese DH patients were enroled and analysed for sequence variants of DUOX2, DUOXA2, and TPO using polymerase chain reaction-amplified direct sequencing.
Fourteen sequence variants of DUOX2, including 10 novel variants, were identified in 11 patients. DUOX2 variants were more prevalent (11/48, 22.9%) than TPO (3/48, 6.3%) (p=0.020). The prevalence of DUOX2 variants in TH was slightly, but not significantly, higher than in PH. Furthermore, one patient had digenic heterozygous sequence variants of both DUOX2 and TPO.
Our results suggest that DUOX2 mutations might be the most common cause of both PH and TH, and that phenotypes of these mutations might be milder than those of other causes.
双氧化酶2（DUOX2）突变是激素合成障碍（DH）的一个原因，已在永久性先天性甲状腺功能减退症（PH）和暂时性甲状腺功能减退症（TH）患者中被发现。我们旨在阐明DUOX2突变的患病率和表型变异。
纳入48例日本DH患者，使用聚合酶链反应扩增直接测序法分析DUOX2、DUOXA2和TPO的序列变异。
在11例患者中鉴定出14种DUOX2序列变异，包括10种新变异。DUOX2变异比TPO变异更常见（11/48，22.9% 比3/48，6.3%）（p = 0.020）。TH中DUOX2变异的患病率略高于PH，但无显著差异。此外，1例患者同时存在DUOX2和TPO的双基因杂合序列变异。
我们的结果表明，DUOX2突变可能是PH和TH最常见的原因，并且这些突变的表型可能比其他原因导致的表型更轻。
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