Abstract:

We examined three patients with a severe infantile type of congenital myopathy due to dominant, missense ACTA1 mutations. In addition to muscle weakness, all three patients showed developmental delay in word comprehension during early childhood. All also showed frontal lobe hypoplasia and lateral ventricular dilatation. One patient in addition exhibited features of multiple congenital malformations including skeletal dysplasia, hepatomegaly and urinary tract stenosis. These findings may suggest a link between extramuscular expression of α-skeletal muscle actin and clinical symptoms in non-skeletal muscle tissues of patients with ACTA1 mutations, and probably a functional role of α-skeletal muscle actin during fetal development.

日本語要旨:

骨格筋型アクチンをコードするACTA1遺伝子変異を伴う3例の優性遺伝性乳児重症型ネマリンミオパチーを報告した。3例とも精神発達遅滞を示すとともに、前頭葉形成不全と脳室拡大を認めた。さらに1例では、骨形成不全、肝腫大、尿管閉鎖などの多発先天性奇形を伴っていた。これらの結果は、胎生期に筋外に発現する骨格筋型アクチンに何らかの機能的役割があることを示している。