[Application of CNVPLUS-array custom microarray in genetic analysis of spinal muscular atrophy]

Area of Science:

• Genetics
• Molecular Biology
• Medical Diagnostics

Context:

• Spinal Muscular Atrophy (SMA) is a genetic disorder affecting motor neurons.
• Accurate genetic diagnosis is crucial for SMA management and treatment.
• Existing diagnostic methods may have limitations in detecting all genetic variations.

Purpose:

• To evaluate the clinical utility of the CNVPLUS-array technique for genetic analysis in Spinal Muscular Atrophy (SMA).
• To compare the diagnostic performance of CNVPLUS-array with the established Multiple Ligation-dependent Probe Amplification (MLPA) assay for SMA.
• To assess the capability of CNVPLUS-array in identifying specific genetic alterations beyond simple copy number variations.

Summary:

• The CNVPLUS-array was used to analyze SMN1 and SMN2 genes in suspected SMA patients, families, and healthy controls.
• Results showed high consistency between CNVPLUS-array and MLPA, with Kappa = 0.968.
• CNVPLUS-array successfully identified SMA patients, carriers, and notably, a patient with compound heterozygous variants and a carrier with a [2+0] genotype.

Impact:

• CNVPLUS-array provides accurate copy number determination for SMN1 and SMN2 genes.
• The technique can identify point mutations in SMN1 and [2+0] carriers, expanding diagnostic capabilities.
• This offers a novel and comprehensive method for the genetic testing of Spinal Muscular Atrophy.