講演情報
[O23-1]DYRK1A遺伝子の機能低下は熱性痙攣の発症とその重篤化に関与する
○上原 朋子, 稲葉 美枝, 水野 誠治 (愛知県医療療育総合センター中央病院 小児内科・遺伝診療科)
Introduction: Febrile convulsions (FC) occur in about 8-10% of the Japanese population. In recent years, research has suggested a relationship between certain genetic mutations and FC, but there are still many unknowns. DYRK1A syndrome is a syndromic intellectual disability and often complicated with FC. However, there are no reports on the characteristics of FC in patients with DYRK1A syndrome, so far. To investigate it, here we retrospectively reviewed the characteristics of FC in six patients at our institution with genetically diagnosed as DYRK1A syndrome.Results: Six patients were included in the study: two women and four men. Their ages ranged from 7 to 24 years. Five of the six patients had a history of 10 or more FC. The five patients had onset of FC after the age of 6 years, the typical age of remission. Three of the five had experienced at least one status convulsion lasting more than 15 minutes in a single FC. Discussion: This study revealed that FC in patients with DYRK1A syndrome are significantly more frequent and have a higher age of onset. The DYRK1A is known to phosphorylate Munc18-1, which interacts with syntaxin1 to regulate its effects. Functional deletion of syntaxin1B, as a gene involved in the development of FC, has been reported. Loss of function of the DYRK1A gene may cause overexcitation of the neuronal circuitry during hyperthermia as in the case of loss of function of the syntaxin1B gene. Accumulation of details of clinical information on patients with DYRK1A syndrome may lead to further elucidation of the pathogenesis of FC.