PDF(Pubmed)
Abstract：
Congenital muscular dystrophy type 1A (CMD1A) is a rare autosomal recessive disorder caused by mutations in the LAMA2 gene. CMD1A is characterized by peripheral hypotonia and muscle weakness from the first months of life, cerebral white matter abnormalities, and elevated creatine phosphokinase (CPK) levels. We describe an 8-year-old girl from Colombia with clinical features compatible with CMD1A, severe scoliosis corrected with surgery, and feeding difficulty corrected with a gastrostomy. Whole-exome sequencing identified two heterozygous variants: a reported nonsense variant (LAMA2 NM_000426.3:c.4198C>T) and a novel likely pathogenic variant (LAMA2 NM_000426.3:c.9227_9243dup). This is the first genetically confirmed case of CMD1A in Colombia and the first report of the c.9227_9243dup variant causing CMD1A.
摘要：
先天性肌营养不良1A型（CMD1A）是由LAMA2基因突变引起的一种罕见的常染色体隐性遗传疾病。CMD1A的特点是外周肌张力减退和肌肉无力从生命的头几个月，脑白质异常,和肌酸磷酸激酶（CPK）水平升高。我们描述了一个来自哥伦比亚的8岁女孩，其临床特征与CMD1A兼容，严重脊柱侧凸经手术矫正,用胃造口术纠正进食困难。全外显子测序鉴定了两个杂合变体：一个报道的无义变体（LAMA2NM_000426.3：c.4198C>T）和一个新的可能的致病性变体（LAMA2NM_000426.3：c.9227_9243dup）。这是哥伦比亚的第一例CMD1A基因证实的病例，也是引起CMD1A的c.9227_9243dup变体的第一份报告。
