复合杂合变异的鉴定：一例报告
Identification of compound heterozygous variants: a case report.
作者信息
Ying Yingchao, Ye Jia, Shen Jue, Chen Guojuan, Jiang Kewen
机构信息
Department of Child Psychology, The Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Department of Neurology, The Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
出版信息
Transl Pediatr. 2024 Jun 30;13(6):1001-1006. doi: 10.21037/tp-24-62. Epub 2024 Jun 14.
BACKGROUND
Laminin-α2 () chain-deficient muscular dystrophy (-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.
CASE DESCRIPTION
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 gene. This case reports for the first time the compound heterozygous variants c.5476C>T (p.R1826*) (paternal inheritance) with c.2749 + 2dup (maternal inheritance), as both variants are interpreted as pathogenic/potentially pathogenic variants.
CONCLUSIONS
This study reports a novel heterozygous variant, including two pathogenic variants in the gene, and highlights the effectiveness of highly efficient exome sequencing applying in patients with undefined CMDs.
背景
层粘连蛋白-α2（）链缺陷型肌营养不良症（-MD）是世界上最常见的先天性肌营养不良症（CMD）。其主要表现为出生后或婴儿早期出现的肌无力和肌张力减退。
病例描述
我们报告了一例3岁6个月大的男孩，表现为运动发育迟缓、肌酸激酶（CK）水平升高以及脑部白质异常。全外显子组测序（WES）显示该基因存在复合杂合变异。本病例首次报告了复合杂合变异c.5476C>T（p.R1826*）（父系遗传）与c.2749 + 2dup（母系遗传），因为这两个变异均被解释为致病/潜在致病变异。
结论
本研究报告了一种新的杂合变异，包括该基因中的两个致病变异，并强调了高效外显子组测序在不明原因CMD患者中的有效性。
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