Department of Pediatrics, Graduate School of Medicine, Chiba University, Chiba, Japan.
Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Am J Med Genet A. 2020 Aug;182(8):1933-1938. doi: 10.1002/ajmg.a.61626. Epub 2020 May 25.
Pathogenic germline variants in the gap junction protein alpha 1 (GJA1) gene have been identified in several congenital disorders affecting cutaneous, skeletal, and cardiac tissues. Here, we describe a 12-year-old patient with a GJA1 c.113G>A, p.(Gly38Glu) variant, who presented with fulminant myocarditis following recurrent generalized erythrokeratoderma. His mother and younger sister had the same clinical manifestations with the same GJA1 variant, but did not have cardiac dysfunction. GJA1 variants have been reported in patients with congenital cardiac malformations, while acute myocarditis in GJA1-related disorders has not been reported so far.
已有研究在多个影响皮肤、骨骼和心脏组织的先天性疾病中发现了连接蛋白α 1 基因（GJA1）中的致病变异体。在此，我们描述了一位 12 岁的患者，携带 GJA1 c.113G>A，p.(Gly38Glu) 变异，他在反复出现全身性红皮病后发生暴发性心肌炎。他的母亲和妹妹具有相同的临床表现和相同的 GJA1 变异，但没有心脏功能障碍。GJA1 变异已在患有先天性心脏畸形的患者中报道，但目前尚未报道 GJA1 相关疾病中的急性心肌炎。
