PDF(Pubmed)
Abstract：
UNASSIGNED: Laminin-α2 (LAMA2) chain-deficient muscular dystrophy (LAMA2-MD) is the most common congenital muscular dystrophy (CMD) in the world. Its main manifestations are muscle weakness and hypotonia that occur after birth or at early infancy.
UNASSIGNED: We reported a case of a 3-year-old and 6-month-old boy presented with delayed motor development, elevated creatine kinase (CK) levels, and abnormal white matter in the brain. Whole exome sequencing (WES) showed compound heterozygous variants of the LAMA2 gene. This case reports for the first time the compound heterozygous LAMA2 variants c.5476C>T (p.R1826*) (paternal inheritance) with c.2749 + 2dup (maternal inheritance), as both variants are interpreted as pathogenic/potentially pathogenic variants.
UNASSIGNED: This study reports a novel heterozygous variant, including two pathogenic variants in the LAMA2 gene, and highlights the effectiveness of highly efficient exome sequencing applying in patients with undefined CMDs.
UNASSIGNED: We reported a case of a 3-year-old and 6-month-old boy presented with delayed motor development, elevated creatine kinase (CK) levels, and abnormal white matter in the brain. Whole exome sequencing (WES) showed compound heterozygous variants of the LAMA2 gene. This case reports for the first time the compound heterozygous LAMA2 variants c.5476C>T (p.R1826*) (paternal inheritance) with c.2749 + 2dup (maternal inheritance), as both variants are interpreted as pathogenic/potentially pathogenic variants.
UNASSIGNED: This study reports a novel heterozygous variant, including two pathogenic variants in the LAMA2 gene, and highlights the effectiveness of highly efficient exome sequencing applying in patients with undefined CMDs.
摘要：
■层粘连蛋白-α2（LAMA2）链缺陷型肌营养不良（LAMA2-MD）是世界上最常见的先天性肌营养不良（CMD）。其主要表现是出生后或婴儿期早期发生的肌肉无力和张力减退。
我们报道了一例3岁6个月大的男孩，表现为运动发育迟缓，肌酸激酶（CK）水平升高，大脑白质异常.全外显子组测序(WES)显示了LAMA2基因的复合杂合变体。该病例首次报道了复合杂合LAMA2变体c.5476C>T（p。R1826*）（父系遗传），c.2749+2dup（母系遗传），因为这两种变体都被解释为致病性/潜在致病性变体。
■这项研究报告了一种新的杂合变体，包括LAMA2基因中的两种致病变异，并强调了高效外显子组测序应用于CMD未定义患者的有效性。
我们报道了一例3岁6个月大的男孩，表现为运动发育迟缓，肌酸激酶（CK）水平升高，大脑白质异常.全外显子组测序(WES)显示了LAMA2基因的复合杂合变体。该病例首次报道了复合杂合LAMA2变体c.5476C>T（p。R1826*）（父系遗传），c.2749+2dup（母系遗传），因为这两种变体都被解释为致病性/潜在致病性变体。
■这项研究报告了一种新的杂合变体，包括LAMA2基因中的两种致病变异，并强调了高效外显子组测序应用于CMD未定义患者的有效性。
