Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea.
Department of Laboratory Medicine, Inha University School of Medicine, Incheon 22332, Korea.
Genes (Basel). 2022 Aug 17;13(8):1465. doi: 10.3390/genes13081465.
Myotonic dystrophy type 1 (DM1) is the most common autosomal-dominant disorder caused by the CTG repeat expansion of the , and it has been categorized into three phenotypes: mild, classic, and congenital DM1. Here, we reviewed the intergenerational influence of gender and phenotype of the transmitting parent on the occurrence of Korean DM1. A total of 44 parent-child pairs matched for the gender of the transmitting parent and the affected child and 29 parent-child pairs matched for the gender and DM1 phenotype of the transmitting parent were reviewed. The CTG repeat size of the in the affected child was found to be significantly greater when transmitted by a female parent to a female child (DM1-FF) (median, 1309 repeats; range, 400-2083) than when transmitted by a male parent to a male child (650; 160-1030; = 0.038 and 0.048 using the Tukey HSD and the Bonferroni test) or by a male parent to a female child (480; 94-1140; = 0.003). The difference in the CTG repeat size of the between the transmitting parent and the affected child was also lower when transmitted from a male parent with classic DM1 (-235; -280 to 0) compared to when it was transmitted from a female parent with mild DM1 (866; 612-905; = 0.015 and 0.019) or from a female parent with classic DM1 (DM1-FC) (605; 10-1393; = 0.005). This study highlights that gender and the DM1 phenotype of the transmitting parent had an impact on the CTG repeat size of the in the affected child, with greater increases being inherited from the DM1-FF or DM1-FC situations in Korean DM1.
肌强直性营养不良 1 型（DM1）是最常见的常染色体显性遗传疾病，由 基因的 CTG 重复扩展引起，并已分为三种表型：轻度、经典型和先天性 DM1。在这里，我们回顾了韩国 DM1 中传递父母的性别和表型对疾病发生的世代间影响。共回顾了 44 对按传递父母性别和受影响子女相匹配的亲子对，以及 29 对按传递父母性别和 DM1 表型相匹配的亲子对。发现当由女性父母传递给女性子女（DM1-FF）（中位数，1309 个重复；范围，400-2083）时，受影响子女中 的 CTG 重复大小明显大于当由男性父母传递给男性子女（650；160-1030； = 0.038 和 0.048 使用 Tukey HSD 和 Bonferroni 检验）或由男性父母传递给女性子女（480；94-1140； = 0.003）。当经典型 DM1 的男性传递者与受影响的孩子相比，传递者与受影响的孩子之间的 中的 CTG 重复大小差异也较低（-235；-280 至 0），而与轻度 DM1 的女性传递者（866；612-905； = 0.015 和 0.019）或经典型 DM1 的女性传递者（DM1-FC）（605；10-1393； = 0.005）相比。这项研究强调了传递父母的性别和 DM1 表型对受影响子女中 的 CTG 重复大小有影响，在韩国 DM1 中，从 DM1-FF 或 DM1-FC 情况遗传的增加更大。
