Subtle Mutation Detection of SMN1 Gene in Chinese Spinal Muscular Atrophy Patients: Implication of Molecular Diagnostic Procedure for SMN1 Gene Mutations

2014 ◽  
Vol 18 (8) ◽  
pp. 546-551 ◽  
Author(s):  
Jin-Li Bai ◽  
Yu-Jin Qu ◽  
Yan-Yan Cao ◽  
Ee-Zhen Li ◽  
Li-Wen Wang ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Diagnostic Procedure ◽  
Mutation Detection ◽  
Muscular Atrophy ◽  
Gene Mutations ◽  
Molecular Diagnostic ◽  
Smn1 Gene

scholarly journals AN AYURVEDIC MANAGEMENT OF SPINAL MUSCULAR ATROPHY (SMA) – A CASE STUDY

2021 ◽  
Vol 9 (11) ◽  
pp. 2897-2902
Author(s):  
Raheena B ◽  
Shaila Borannavar ◽  
Ananta S Desai
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neurons ◽  
Autosomal Recessive ◽  
Muscular Atrophy ◽  
Genetic Disorder ◽  
The Body ◽  
Erect Posture ◽  
Smn1 Gene ◽  
Autosomal Recessive Pattern

Spinal Muscular Atrophy (SMA) is the second leading genetic disorder inherited in the autosomal recessive pattern due to the absence of the SMN1 gene characterized by loss of motor neurons and progressive muscle wasting, often leading to dependent life and decreased life span. In Ayurveda, this condition can be considered as Kulaja Vyadhi wherein the patient’s Mamsa and Snayu is affected by Vata. This can be regarded as Mamsa-Snayugata Sarvanga Vata. It is said that Prakruta Vata dosha is the life, it is the strength, it is the sustainer of the body, it holds the body and life together. If it is Vikruta it produces Sankocha, Khanja, Kubjatva, Pangutva, Khalli and Soshana of Anga. So, in this disease aggravated Vata does the vitiation of Mamsa and Snayu thus leading to Soshana of both, resulting in Stambha, Nischalikarana of Avayava. A 21years female patient was admitted to our I.P.D with c/o of reduced strength in all four limbs leading to the inability to walk and to maintain erect posture during standing and sitting positions. Based on Ayurvedic principles the patient was initially subjected to Avaranahara Chikitsa followed by Brimhana line of management. Keywords: Mamsagata vata, Snayugata vata, Sarvanga vata, Spinal muscular atrophy (SMA)

scholarly journals Validation of a Fast, Robust, Inexpensive, Two-Tiered Neonatal Screening Test algorithm on Dried Blood Spots for Spinal Muscular Atrophy

2019 ◽  
Vol 5 (2) ◽  
pp. 21 ◽  
Author(s):  
Annuska Strunk ◽  
Andre Abbes ◽  
Antoine Stuitje ◽  
Chris Hettinga ◽  
Eline Sepers ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
Neonatal Screening ◽  
Muscular Atrophy ◽  
Melting Curve ◽  
Curve Analysis ◽  
Melting Curve Analysis ◽  
Smn1 Gene ◽  
Screening Programs ◽  
Crude Extracts

Spinal muscular atrophy (SMA) is one of the leading genetic causes of infant mortality with an incidence of 1:10,000. The recently-introduced antisense oligonucleotide treatment improves the outcome of this disease, in particular when applied at an early stage of progression. The genetic cause of SMA is, in >95% of cases, a homozygous deletion of the survival motor neuron 1 (SMN1) gene, which makes the low-cost detection of SMA cases as part of newborn screening programs feasible. We developed and validated a new SALSA MC002 melting curve assay that detects the absence of the SMN1 exon 7 DNA sequence without detecting asymptomatic carriers and reliably discriminates SMN1 from its genetic homolog SMN2 using crude extracts from newborn screening cards. Melting curve analysis shows peaks specific for both the SMN1 gene and the disease modifying SMN2 homolog. The detection of the SMN2 homolog, of which the only clinically relevant difference from the SMN1 gene is a single nucleotide in exon 7, was only used to confirm a correct reaction in samples that lacked the SMN1 gene, and not for SMN2 quantification. We retrieved 47 DBS samples from children with genetically-confirmed SMA, after informed consent from parents, and 375 controls from the national archive of the Dutch National Institute for Public Health and the Environment (RIVM). The assay correctly identified all anonymized and randomized SMA and control samples (i.e., sensitivity and specificity of 100%), without the detection of carriers, on the three most commonly-used PCR platforms with melting curve analysis. This test’s concordance with the second-tier ‘golden standard’ P021 SMA MLPA test was 100%. Using the new P021–B1 version, crude extracts from DBS cards could also be used to determine the SMN2 copy number of SMA patients with a high level of accuracy. The MC002 test showed the feasibility and accuracy of SMA screening in a neonatal screening program.

scholarly journals Establishment of a Molecular Diagnostic System for Spinal Muscular Atrophy

2011 ◽  
Vol 13 (1) ◽  
pp. 41-47 ◽  
Author(s):  
Jian Zeng ◽  
Yanhong Lin ◽  
Aizhen Yan ◽  
Longfeng Ke ◽  
Zhongyong Zhu ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Diagnostic System ◽  
Molecular Diagnostic

SMN1 gene point mutations in type I–IV proximal spinal muscular atrophy patients with a single copy of SMN1

2015 ◽  
Vol 51 (9) ◽  
pp. 925-931
Author(s):  
V. V. Zabnenkova ◽  
E. L. Dadali ◽  
S. B. Artemieva ◽  
I. V. Sharkova ◽  
G. E. Rudenskaya ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Point Mutations ◽  
Single Copy ◽  
Type I ◽  
Smn1 Gene ◽  
Proximal Spinal Muscular Atrophy

scholarly journals Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency

2021 ◽  
Vol 14 (3) ◽  
pp. 424-428
Author(s):  
Mihaela Axente ◽  
◽  
◽  
Elena-Silvia Shelby ◽  
Andrada Mirea ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neurons ◽  
Muscular Atrophy ◽  
Smn1 Gene ◽  
Progressive Degeneration ◽  
Whole Exome ◽  
Uncertain Significance ◽  
Progressive Myoclonic Epilepsy ◽  
Ceramidase Deficiency ◽  
Next Generation Sequencing Ngs

Spinal muscular atrophy (SMA) is a spectrum of genetically and clinically heterogeneous diseases leading to the progressive degeneration of peripheric motor neurons with subsequent muscle weakness and atrophy. More than 95% of the cases of SMA are represented by homozygous mutations of the SMN1 gene (5q-SMA). Because this disease represents the leading cause of death due to a genetic cause and due to the availability of genetic therapies which can now save the life of the patient and stop the progress of the disease, early diagnosis is crucial. This report presents the case of a 13-year-old patient admitted to our hospital in 2018 who presented a phenotype typical to 5q-SMA. Next-generation sequencing (NGS) and Sanger sequencing of the SMN1 gene were performed, and a negative result was obtained. Consequently, we continued testing using whole-exome sequencing and discovered three mutations in the ASAH1 gene (one pathogenic and two variants of uncertain significance). Pathogenic mutations in the ASAH1 gene are responsible for spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) and Farber disease, which overlapped with our patient’s phenotype. Currently, there are 45 SMA cases caused by mutations in the ASAH1 gene reported worldwide; however, the present case is the first reported in Romania.

scholarly journals Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene

2021 ◽  
Vol 7 (4) ◽  
pp. e599
Author(s):  
Angela Sung ◽  
Paolo Moretti ◽  
Aziz Shaibani
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Gene Mutations ◽  
Molecular Data ◽  
Clinical Syndrome ◽  
Compound Heterozygous ◽  
Adult Onset ◽  
Pathogenic Variants ◽  
Neurologic Disorders ◽  
Progressive Weakness

ObjectiveTo expand our knowledge of the range of clinical phenotypes associated with vaccinia-related kinase 1 (VRK1) gene mutations.MethodsWe present clinical and molecular data of 2 individuals with slowly progressive weakness and a clinical syndrome consistent with adult-onset spinal muscular atrophy without pontocerebellar atrophy.ResultsGenetic testing revealed likely pathogenic variants in the VRK1 gene in both subjects. One individual carried homozygous p.R321C (c.961 C>T), likely pathogenic variants. The other carried compound heterozygous p.V236M (c.706 G>A) and p.R321C (c.961 C>T), likely pathogenic variants. Notably, both patients were of Hispanic descent.ConclusionsWe report 2 cases with VRK1 mutations presenting as adult-onset spinal muscular atrophy without pontocerebellar hypoplasia and review the current literature of similar cases. Our report expands the clinical spectrum of neurologic disorders associated with VRK1 mutations.

SMN1 gene study in three families in which ALS and spinal muscular atrophy co-exist

Neurology ◽  
2002 ◽  
Vol 59 (9) ◽  
pp. 1464-1466 ◽  
Author(s):  
P. Corcia ◽  
J. Khoris ◽  
P. Couratier ◽  
V. Mayeux-Portas ◽  
E. Bieth ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Smn1 Gene ◽  
Gene Study
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