SMN1型
脊髓性肌萎缩
外显子
形状记忆合金*
多重连接依赖探针扩增
遗传学
载波测试
错义突变
突变
基因
分子生物学
产前诊断
生物
胎儿
怀孕
数学
组合数学
作者
Ningning Wang,Kexin Jiao,Junjun He,Bochen Zhu,Nachuan Cheng,Jian Sun,Lan Chen,Wan‐Jin Chen,Lingyun Gong,Kai Qiao,Jianying Xi,Qihan Wu,Chongbo Zhao,Wenhua Zhu
标识
DOI:10.1016/j.jmoldx.2024.02.004
摘要
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder primarily caused by the deletion or mutation of the survival motor neuron 1 (SMN1) gene. This study assesses the diagnostic potential of long-read sequencing (LRS) in three patients with SMA. For Patient 1, who has a heterozygous SMN1 deletion, LRS unveiled a missense mutation in SMN1 exon 5. In Patient 2, an Alu/Alu-mediated rearrangement covering the SMN1 promoter and exon 1 was identified through a blend of multiplex ligation-dependent probe amplification, LRS, and PCR across the breakpoint. The third patient, born to a consanguineous family, bore four copies of hybrid SMN genes. LRS determined the genomic structures, indicating two distinct hybrids of SMN2 exon 7 and SMN1 exon 8. However, a discrepancy was found between the SMN1/SMN2 ratio interpretations by LRS (0:2) and multiplex ligation-dependent probe amplification (0:4), which suggested a limitation of LRS in SMA diagnosis. In conclusion, this newly adapted long PCR-based third-generation sequencing introduces an additional avenue for SMA diagnosis.
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