Mutation Screening for Confirming Suspected Spinal Muscular Atrophy using Dried Blood Spotted on In-House Cellulose-Based Cards

Authors

• Yogik Onky Silvana Wijaya, Department of Biochemistry, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Sleman 55281, IndonesiaFollow
• Farda Tsaqouva Ahza, Department of Biochemistry, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Sleman 55281, Indonesia
• Annisa Naufal Almaszahra, Department of Biochemistry, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Sleman 55281, Indonesia
• Mawaddah Ar Rochmah, Department of Neurology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Sleman 55281, Indonesia
• Dian Kesumapramudya Nurputra, Department of Pediatrics, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Sleman 55281, Indonesia

Abstract

Early and accurate diagnosis for spinal muscular atrophy (SMA) has gained relevance in an era of emerging therapies to improve patient outcomes. While screening of dried blood spots (DBS) effectively detects deletion-type SMA, non-deletion cases are often missed. Mutation screening from DBS is needed to address this gap. Here, we aimed to evaluate the feasibility of an in-house, cellulose-based card for direct Sanger sequencing for variant hunting, avoiding DNA extraction and offering an alternative to commercial cards. As a proof of concept, sequences obtained from DBSs of 23 healthy individuals were compared with sequences derived from isolated genomic DNA (gDNA). Two DBSs from unrelated SMA-suspected cases retaining the Survival Motor Neuron 1 (SMN1) gene were then sequenced similarly. All SMN exons from DBS were amplified and sequenced; the results were consistent with those obtained with gDNA. A common exon 3 variant was identified in two unrelated healthy individuals and was consistent in both DBS and gDNA samples. No pathovars could be detected in the DBSs of the suspected cases. These findings demonstrated the feasibility of direct sequencing from DBS on an in-house card for screening SMA mutations, particularly non-SMN1 deletions. Such an approach can enhance early diagnosis and intervention, especially in resource-limited settings.

Recommended Citation

Wijaya, Yogik Onky Silvana; Ahza, Farda Tsaqouva; Almaszahra, Annisa Naufal; Ar Rochmah, Mawaddah; and Nurputra, Dian Kesumapramudya (2026) "Mutation Screening for Confirming Suspected Spinal Muscular Atrophy using Dried Blood Spotted on In-House Cellulose-Based Cards," Makara Journal of Science: Vol. 30: Iss. 2, Article 2.
DOI: 10.7454/mss.v30i2.3150
Available at: https://scholarhub.ui.ac.id/science/vol30/iss2/2