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Updated: Jan 10, 2026

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

A More Clinically Effective Long-Read Sequencing-Based Approach for Comprehensive Analysis of Spinal Muscular

Shuyuan Li¹, Bailing Liu², Jingfan Zhang³

¹International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China; Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China; Institute of Birth Defects and Rare Diseases, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

The Journal of Molecular Diagnostics : JMD

|November 20, 2025

Summary

This summary is machine-generated.

A new long-read sequencing method, CASMA2, accurately detects spinal muscular atrophy (SMA) genetic variants and copy numbers. This approach improves carrier and newborn screening for SMA, offering a precise and efficient clinical solution.

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Last Updated: Jan 10, 2026

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Area of Science:

Genetics
Molecular Biology
Bioinformatics

Background:

Conventional spinal muscular atrophy (SMA) screening methods struggle with detecting specific genetic variants like single-nucleotide variants (SNVs), small insertions/deletions, and SMN2 copy numbers.
Accurate identification of SMA carriers and genetic status is crucial for effective genetic counseling and early intervention.

Purpose of the Study:

To develop and evaluate a novel long-read sequencing (LRS) based approach, CASMA2, for comprehensive SMA genetic screening.
To assess the clinical feasibility and accuracy of CASMA2 in analyzing SMN1/2 variants and copy number variations (CNVs).

Main Methods:

CASMA2 utilizes long-read sequencing (LRS) for comprehensive analysis of SMN1/2.
Copy number (CN) analysis is performed by integrating Poisson distribution with an endogenous reference gene, a novel application for LRS platforms.
Performance was validated using 414 retrospective peripheral blood samples and 303 prospective dried blood spot samples.

Main Results:

CASMA2 achieved 100% accuracy in SMN1/2 copy number (CN) analysis and successfully identified SNVs, insertions, and deletions in SMN1/2.
The method demonstrated capability in screening for the SMN1 2 + 0 silent carrier using family-trio haplotype analysis.
High success rates were observed: 99.0% for peripheral blood and 98.7% for dried blood spot samples.

Conclusions:

CASMA2 provides a clinically feasible, precise, and efficient method for SMA carrier screening.
This LRS-based approach enhances the detection of critical genetic markers for SMA.
CASMA2 represents a significant advancement for newborn and carrier screening programs for spinal muscular atrophy.