Subtle mutations in the
BMC Medical Genetics, 2012 Background Proximal spinal muscular atrophy (SMA) is a common neuromuscular disorder resulting in death during childhood. Around 81 ~ 95% of SMA cases are a result of homozygous deletions of survival motor neuron gene 1 (SMN1) gene or gene conversions ...
Yu-jin Qu +6 more
doaj +7 more sources
Dysfunctional mitochondria accumulate in a skeletal muscle knockout model of Smn1, the causal gene of spinal muscular atrophy [PDF]
Cell Death and Disease, 2023 The approved gene therapies for spinal muscular atrophy (SMA), caused by loss of survival motor neuron 1 (SMN1), greatly ameliorate SMA natural history but are not curative.
Rubén Quintana-Cabrera +2 more
exaly +3 more sources
Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study [PDF]
Orphanet Journal of Rare DiseasesBackground Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease. Most patients with SMA have a mutation in the survival motor neuron 1 (SMN1) gene on chromosome 5q.
Tamaki Kato +6 more
doaj +4 more sources
Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals [PDF]
Cellular and Molecular Life Sciences, 2015 Spinal muscular atrophy (SMA) is a devastating motoneuron (MN) disorder caused by homozygous loss of SMN1. Rarely, SMN1-deleted individuals are fully asymptomatic despite carrying identical SMN2 copies as their SMA III-affected siblings suggesting ...
Johannes Jungverdorben +2 more
exaly +6 more sources
Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots [PDF]
International Journal of Neonatal Screening, 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.
Yogik Onky Silvana Wijaya +11 more
doaj +2 more sources
Application of whole genome sequencing for carrier and diagnostic assessment of spinal muscular atrophy in Taiwan [PDF]
npj Genomic MedicineThis study aimed to evaluate the feasibility of whole-genome sequencing (WGS) combined with computational tools for spinal muscular atrophy (SMA) carrier screening and disease diagnosis in Taiwan.
Li-Ling Lin +13 more
doaj +2 more sources
Targeted Carrier Screening for Thalassemia, Hereditary Deafness, and Spinal Muscular Atrophy: A Feasible Approach for Preventing Birth Defects in China's Community Healthcare System. [PDF]
Mol Genet Genomic MedCurrent carrier screening primarily focuses on high detection rates and broad testing ranges. We approach the issue from the perspective of a community physician, evaluating the suitability of carrier screening based on factors such as cost, ease of report interpretation, and compliance issues.
Wang Z +6 more
europepmc +2 more sources
Validation on the First-Tier Fully Automated High-Throughput SMN1, SMN2, TREC, and RPP30 Quantification by Quadruplex Droplet Digital PCR for Newborn Screening for Spinal Muscular Atrophy and Severe Combined Immunodeficiency [PDF]
International Journal of Neonatal ScreeningNewborn screening (NBS) for spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) faces challenges. Accurate and precise SMN1 and SMN2 copy number determination, confirmed by two orthogonal methods, are vital for SMA prognostication ...
Chloe Miu Mak +9 more
doaj +2 more sources
Newborn Screening Program for Spinal Muscular Atrophy in the Campania Region (Italy): Current Limitations and Potential Perspectives [PDF]
International Journal of Neonatal ScreeningThree targeted therapies are currently available for spinal muscular atrophy (SMA), which have dramatically changed the natural history of this severe and potentially fatal disease.
Adelaide Ambrosio +11 more
doaj +2 more sources
Variants located in intron 6 of SMN1 lead to misdiagnosis in genetic detection and screening for SMA [PDF]
HeliyonAccurate genetic diagnosis is necessary for guiding the treatment of spinal muscular atrophy (SMA). An updated consensus for the diagnosis and management of SMA was published in 2018.
Yujin Qu +9 more
doaj +2 more sources