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Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots

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Department of Community Medicine and Social Healthcare Science, Division of Epidemiology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan
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Medical Genetics Laboratory, National Center for Maternal and Child Health, Khuvisgalchdyn Street, Bayangol District, Ulaanbaatar 16060, Mongolia
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Department of Clinical Pathology and Laboratory Medicine, Faculty of Medicine, Universitas Gadjah Mada, Radiopoetro Building 5th floor, Jl. Farmako, Sekip Utara, Yogyakarta 55281, Indonesia
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Faculty of Nutrition, Kobe Gakuin University, 518 Arise, Ikawadani-cho, Nishi-ku, Kobe 651-2180, Japan
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Department of Pediatrics, Faculty of Medicine, Universitas Gadjah Mada, Jl. Kesehatan No.1, Sekip, Yogyakarta 55281, Indonesia
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Department of Neurology, Faculty of Medicine, Universitas Gadjah Mada, Jl. Kesehatan No.1, Sekip, Yogyakarta 55281, Indonesia
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Department of Pediatrics, Shimane University School of Medicine, 89-1 Enya, Izumo, Shimane 693-8501, Japan
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Faculty of Rehabilitation, Kobe Gakuin University, 518 Arise, Ikawadani-cho, Nishi-ku, Kobe 651-2180, Japan
*
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2020, 6(2), 43; https://doi.org/10.3390/ijns6020043
Received: 28 April 2020 / Revised: 23 May 2020 / Accepted: 27 May 2020 / Published: 29 May 2020
Spinal muscular atrophy (SMA) is a common neuromuscular disease with autosomal recessive inheritance. The disease gene, SMN1, is homozygously deleted in 95% of SMA patients. Although SMA has been an incurable disease, treatment in infancy with newly developed drugs has dramatically improved the disease severity. Thus, there is a strong rationale for newborn and carrier screening for SMA, although implementing SMA carrier screening in the general population is controversial. We previously developed a simple, accurate newborn SMA screening system to detect homozygous SMN1 deletions using dried blood spots (DBS) on filter paper. Here, we modified our previous system to detect the heterozygous deletions of SMN1, which indicates SMA carrier status. The system involves a calibrator-normalized relative quantification method using quantitative nested PCR technology. Our system clearly separated the DBS samples with one SMN1 copy (carrier status with a heterozygous deletion of SMN1) from the DBS samples with two SMN1 copies (non-carrier status with no deletion of SMN1). We also analyzed DBS samples from SMA families, confirmed SMA in the affected children, and determined the carrier status of their parents based on the SMN1 copy number. In conclusion, our system will provide essential information for risk assessment and genetic counseling, at least for SMA families. View Full-Text
Keywords: spinal muscular atrophy; carrier; SMN1; dried blood spot; quantitative nested PCR spinal muscular atrophy; carrier; SMN1; dried blood spot; quantitative nested PCR
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Wijaya, Y.O.S.; Purevsuren, J.; Harahap, N.I.F.; Niba, E.T.E.; Bouike, Y.; Nurputra, D.K.; Rochmah, M.A.; Thursina, C.; Hapsara, S.; Yamaguchi, S.; Nishio, H.; Shinohara, M. Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots. Int. J. Neonatal Screen. 2020, 6, 43.

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