PDF(Pubmed)
Abstract：
UNASSIGNED: SCN4A mutations account for a diverse array of clinical manifestations, encompassing periodic paralysis, myotonia, and newly recognized symptoms like classical congenital myopathy or congenital myasthenic syndromes. We describe the initial occurrence of myopathic features mimic with recessive classical CM in a Korean infant presenting with novel compound heterozygous SCN4A mutations. The infant exhibited profound hypotonia after birth, thereby expanding the spectrum of SCN4A-related channelopathy.
UNASSIGNED: The genetic analyses comprised targeted exome sequencing, employing a Celemics G-Mendeliome DES Panel, along with Sanger sequencing.
UNASSIGNED: Considering the clinical manifestations observed in the proband, SCN4A variants emerged as the primary contenders for autosomal recessive (AR) congenital myopathy 22a, classic (#620351). Sanger sequencing validated the association of SCN4A variants with the phenotype, affirming the AR nature of the compound heterozygous variants in both the carrier mother (c.3533G > T/p.Gly1178Val) and the father (c.4216G > A/p.Ala1406Thr).
UNASSIGNED: Our report emphasizes the association of novel compound heterozygous mutations in SCN4A with myopathic features resembling CM, as supporting by muscle biopsy. It is essential to note that pathogenic SCN4A LoF mutations are exceedingly rare. This study contributes to our understanding of SCN4A mutations and their role in myopathic features mimic with classical CM.
UNASSIGNED: The genetic analyses comprised targeted exome sequencing, employing a Celemics G-Mendeliome DES Panel, along with Sanger sequencing.
UNASSIGNED: Considering the clinical manifestations observed in the proband, SCN4A variants emerged as the primary contenders for autosomal recessive (AR) congenital myopathy 22a, classic (#620351). Sanger sequencing validated the association of SCN4A variants with the phenotype, affirming the AR nature of the compound heterozygous variants in both the carrier mother (c.3533G > T/p.Gly1178Val) and the father (c.4216G > A/p.Ala1406Thr).
UNASSIGNED: Our report emphasizes the association of novel compound heterozygous mutations in SCN4A with myopathic features resembling CM, as supporting by muscle biopsy. It is essential to note that pathogenic SCN4A LoF mutations are exceedingly rare. This study contributes to our understanding of SCN4A mutations and their role in myopathic features mimic with classical CM.
摘要：
■SCN4A突变是一系列不同的临床表现，包括周期性瘫痪，肌强直,和新认识的症状，如经典先天性肌病或先天性肌无力综合征。我们描述了在出现新型复合杂合SCN4A突变的韩国婴儿中，隐性经典CM模拟肌病特征的最初发生。婴儿出生后表现出深度张力减退，从而扩展了SCN4A相关信道的频谱。
■遗传分析包括靶向外显子组测序，采用CelemicsG-MendeliomeDES小组，以及桑格测序。
■考虑到先证者的临床表现，SCN4A变体成为常染色体隐性遗传（AR）先天性肌病22a的主要竞争者，经典（#620351）。Sanger测序验证了SCN4A变体与表型的关联，确认两种载体母亲中复合杂合变体的AR性质（c.3533G>T/p。Gly1178Val）和父亲（c.4216G>A/p。Ala1406Thr）。
■我们的报告强调了SCN4A中新型复合杂合突变与类似CM的肌病特征的关联，由肌肉活检支持。必须注意的是，致病性SCN4ALoF突变非常罕见。这项研究有助于我们了解SCN4A突变及其在经典CM模拟肌病特征中的作用。
■遗传分析包括靶向外显子组测序，采用CelemicsG-MendeliomeDES小组，以及桑格测序。
■考虑到先证者的临床表现，SCN4A变体成为常染色体隐性遗传（AR）先天性肌病22a的主要竞争者，经典（#620351）。Sanger测序验证了SCN4A变体与表型的关联，确认两种载体母亲中复合杂合变体的AR性质（c.3533G>T/p。Gly1178Val）和父亲（c.4216G>A/p。Ala1406Thr）。
■我们的报告强调了SCN4A中新型复合杂合突变与类似CM的肌病特征的关联，由肌肉活检支持。必须注意的是，致病性SCN4ALoF突变非常罕见。这项研究有助于我们了解SCN4A突变及其在经典CM模拟肌病特征中的作用。
