Gene deletions in spinal muscular atrophy.

Rodrigues, Nanda; Owen, Nicholas; Talbot, Kevin; Patel, Shobna; Muntoni, Francesco; Ignatius, Jaakko; Dubowitz, Victor; Davies, Kay E.

doi:10.1136/jmg.33.2.93

Cited by 79 publications

(79 citation statements)

References 26 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…This observation agrees with previous investigations (Bussaglia et al, 1995;Chang et al, 1995;Lefebvre et al, 1995;Rodrigues et al, 1996).…”

Section: Discussionsupporting

confidence: 94%

“…On the other hand, the reported frequency of deletions in the NAIP gene, which has 16 exons spanning 60 kb of genomic DNA, varies in different populations from 67.9 to 0% (Chang et al, 1995;Rodrigues et al, 1996;Velasco et al, 1996) and is apparently higher in type I patients than types II and III (Cobben et al, 1995;Hahnen et al, 1995;Roy et al, 1995;Velasco et al, 1996).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Clinical and molecular analysis of spinal muscular atrophy in Brazilian patients

et al. 1999

View full text Add to dashboard Cite

Spinal muscular atrophy (SMA), the second most common lethal autosomal recessive disorder, has an incidence of 1:10,000 newborns. SMA is divided into acute (Werdnig-Hoffmann disease, type I), intermediate (type II) and juvenile forms (KugelbergWelander disease, type III). The gene of all three forms of SMA maps to chromosome 5q 11.2-13.3. Two candidate genes, the survival motor neuron (SMN) gene and the neuronal apoptosis inhibitory protein (NAIP) gene, have been identified; SMN is deleted in most SMA patients. We studied both genes in 87 Brazilian SMA patients (20 type I, 14 type II and 53 type III) from 74 unrelated families, by using PCR and single strand conformation polymorphism (SSCP). Deletions of exons 7 and/or 8 of the SMN gene were found in 69% of the families: 16/20 in type I, 9/12 in type II and 26/42 in type III. Among 51 families with deletions, 44 had both exons deleted while seven had deletions only of exon 7. Deletions of exon 5 of the NAIP gene were found in 7/20 of type I, 2/12 of type II and 1/42 of type III patients. No deletion of SMN and NAIP genes was found in 112 parents, 26 unaffected sibs and 104 normal controls. No correlation between deletions of one or both genes and phenotype severity was found.

show abstract

“…This observation agrees with previous investigations (Bussaglia et al, 1995;Chang et al, 1995;Lefebvre et al, 1995;Rodrigues et al, 1996).…”

Section: Discussionsupporting

confidence: 94%

Section: Introductionmentioning

confidence: 99%

Clinical and molecular analysis of spinal muscular atrophy in Brazilian patients

et al. 1999

View full text Add to dashboard Cite

show abstract

“…In order to correlate the extent of the deletion with clinical severity of disease, we have analyzed the deletion pattern of both genes. We have constructed genotypes of patients using the model proposed in [24]. The results are shown in Table 1.…”

Section: Resultsmentioning

confidence: 99%

Molecular Analysis of Survival Motor Neuron and Neuronal Apoptosis Inhibitory Protein Genes in Macedonian Spinal Muscular Atrophy Patients

Kocheva¹,

Vlaski-Jekic

Kuturec³

et al. 2007

Balkan Journal of Medical Genetics

View full text Add to dashboard Cite

Spinal muscular atrophy (SMA) is classified according to the age of onset and severity of the clinical manifesta tions into: acute (Werding-Hoffman disease or type I), intermediate (type II) and juvenile (Kugelberg-Wilander disease or type III) forms. All three SMAs have been linked to markers at 5q11.2-q13.3. Two candidate genes deleted in SMA patients are the survival motor neuron (SMN) gene and the neuronal apoptosis inhibitory protein (NAIP) gene. We have performed molecular analyses of these genes in 30 unrelated Macedonian families (17 with type I, eight with type II and five with type III forms of the disease). Deletions of exons 7 and 8 of the SMN gene were found in 76.6% (23/30) of patients (94.1% in type I, 87.5% in type II). Among these 23 families, 19 had both exons deleted, while four had deletions only of exon 7. Deletions of exon 5 of the NAIP gene were found in 41.2% (7/17) patients with type I SMA and in 12.5% (1/8) of patients with type II SMA. No deletions of the SMN gene were found in 30 parents and 30 normal controls. We found 2/30 (6.7%) parents to be homozygous for the dele tion of exon 5. Our data support the hypothesis that the telomeric SMN gene plays a major role in determining the clinical course of the disease, while the defects in the NAIP gene have only a modifying effect on the phenotype.

show abstract

“…Deletion in survival motor neuron (SMN1) gene is identified in 92% of all classical SMA patients. [6] TREATMENT: No medical treatment is able to delay the progression. Valproic acid can be given as it increases SMN 2 protein and sodium butyrate may slow the progression but do not alter the course of disease in all patients.…”

Section: Introduction: Discussionmentioning

confidence: 99%

Spinal Muscular Atrophy

Rai¹,

Bhalke²,

Hajela³

2015

jemds

View full text Add to dashboard Cite

ABSTRACT:Spinal muscular atrophy is genetic disorder in which anterior horn cells in spinal cord and motor nuclei of brain stem are progressively lost. The mechanism is defect in programmed cell death, wherein the deletion of cells (A normal process during gestation) continues after birth. We are reporting a case of 25 month old male with spinal muscular atrophy type 2.25 month old male presented with generalized hypotonic born at term gestation, product of non-consanguineous marriage, with developmental delay.On examination muscular atrophy was present in bilateral lower limbs, generalised hypotonia present. Deep tendon reflexes absent. Power grade 3 in lower limbs and grade 4 in upper limbs. Genetic study showed deletion of exon 7 & 8 of SMN1 gene. EMG showed neurogenic pattern of fibrillation.

show abstract

Gene deletions in spinal muscular atrophy.

Cited by 79 publications

References 26 publications

Clinical and molecular analysis of spinal muscular atrophy in Brazilian patients

Clinical and molecular analysis of spinal muscular atrophy in Brazilian patients

Molecular Analysis of Survival Motor Neuron and Neuronal Apoptosis Inhibitory Protein Genes in Macedonian Spinal Muscular Atrophy Patients

Spinal Muscular Atrophy

Contact Info

Product

Resources

About