Molecular analysis of the <i>SMN</i> and <i>NAIP</i> genes in Iranian spinal muscular atrophy patients

Omrani, Omid; Bonyadi, Mortaza; Barzgar, Mohammad

doi:10.1111/j.1442-200x.2008.02665.x

Cited by 16 publications

(21 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…[4] Genetic diagnosis by using polymerase chain reaction (PCR)-based DNA methods have been developed to detect deletions in both SMN and Neuronal apoptosis inhibitory (NAIP) gene. [2,9] SMA is an autosomal recessive and consanguineous marriage increases the risk of the disease in the family. High prevalence of SMA has been reported in Iran, Egypt, and Saudi Arabia where consanguineous marriage rates are high.…”

Section: Resultsmentioning

confidence: 99%

Spinal muscular atrophy: Clinical spectrum and genetic mutations in Pakistani children

2012

View full text Add to dashboard Cite

SMA is not an uncommon neurodegenerative disorder in Pakistan and SMA type I was the most common type. SMN1 gene deletion was the most common genetic deletion found in this study. In addition, family history of developmental delay and frequent early deaths highlights the need for implementation of prenatal diagnosis for early detection, effective control, and management of this disorder in Pakistan.

show abstract

Section: Resultsmentioning

confidence: 99%

Spinal muscular atrophy: Clinical spectrum and genetic mutations in Pakistani children

2012

View full text Add to dashboard Cite

show abstract

“…More than 90% of SMA patients are associated with a homozygous deletion in the SMN1 gene [7][8][9][10] . The copy number of both SMN genes varies greatly in the population.…”

Section: Introductionmentioning

confidence: 99%

Detection of Spinal Muscular Atrophy Carriers in a Sample of the Brazilian Population

Bueno¹,

Gouvea²,

Genari³

et al. 2011

Neuroepidemiology

View full text Add to dashboard Cite

Background: Spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by mutations in the SMN1 gene. Identification of spinal muscular atrophy carriers has important implications for individuals with a family history of the disorder and for genetic counseling. The aim of this study was to determine the frequency of carriers in a sample of the nonconsanguineous Brazilian population by denaturing high-performance liquid chromatography (DHPLC). Methods: To validate the method, we initially determined the relative quantification of DHPLC in 28 affected patients (DHPLC values: 0.00) and 65 parents (DHPLC values: 0.49–0.69). Following quantification, we studied 150 unrelated nonconsanguineous healthy individuals from the general population. Results: Four of the 150 healthy individuals tested (with no family history of a neuromuscular disorder) presented a DHPLC value in the range of heterozygous carriers (0.6–0.68). Conclusions: Based on these results, we estimated there is a carrier frequency of 2.7% in the nonconsanguineous Brazilian population, which is very similar to other areas of the world where consanguineous marriage is not common. This should be considered in the process of genetic counseling and risk calculations.

show abstract

“…showed the rate of SMN1 and NAIP gene deletion to be 90% and 57.3%, respectively. [26] Hasanzade et al . in 2009 analyzed deletions in exon 7 of the SMA gene only in 243 families and showed that 94% patients had deletion.…”

Section: Discussionmentioning

confidence: 99%

“…[27] A comparison of deletion frequency in survival motor neuron and neuronal apoptosis inhibitory protein genes in Iranian patients and other populations are shown in Table 2. [126303132333435]…”

Section: Discussionmentioning

confidence: 99%

Genotype-phenotype correlation of survival motor neuron and neuronal apoptosis inhibitory protein genes in spinal muscular atrophy patients from Iran

et al. 2014

View full text Add to dashboard Cite

Background:Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by symmetrical proximal muscle weakness and atrophy. According to the severity of the disease and the age of onset, SMA can be divided into three groups. The survival motor neuron (SMN) gene that is located on 5q13 is identified as the disease determining gene. Another gene in this region is neuronal apoptosis inhibitory protein (NAIP), and its functional role in the pathogenesis of SMA has not been fully elucidated. Here, we investigated the correlation between deletions in SMN and NAIP genes with clinical features of SMA patients.Materials and Methods:In the current study, 71 unrelated Iranian patients were investigated for the detection of deletions in SMN1 and NAIP genes. Polymerase chain reaction (PCR) was used to detect the deletions of exon 4 and 5 of the NAIP gene. Deletions in exon 7 and 8 of SMN1 gene were detected by RFLP-PCR with DraI and DdeI, respectively.Results:Our results showed that 51 patients have homozygous deletions in SMN1 and/or NAIP genes. Among these 51 patients, deletion in NAIP gene were found in 35 patients (65.7% of type I, 22.5% type II and 11.42% type III).Conclusion:Defect in SMN1 gene plays a major role in manifesting of the disease and NAIP (4 and 5) gene acts as a modifying factor in severity of symptoms. Correlation between NAIP gene defect and severity of the disease is confirmed. However, the exact role of NAIP gene in SMA has yet to be fully clarified.

show abstract

Molecular analysis of the SMN and NAIP genes in Iranian spinal muscular atrophy patients

Abstract: Deletion of the SMN1 gene is a major cause of SMA in Iran, and NAIP gene deletions were common in the present patients with type I SMA. Also, the incidence of NAIP deletion is higher in more severe SMA.

Cited by 16 publications

References 24 publications

Spinal muscular atrophy: Clinical spectrum and genetic mutations in Pakistani children

Spinal muscular atrophy: Clinical spectrum and genetic mutations in Pakistani children

Detection of Spinal Muscular Atrophy Carriers in a Sample of the Brazilian Population

Genotype-phenotype correlation of survival motor neuron and neuronal apoptosis inhibitory protein genes in spinal muscular atrophy patients from Iran

Contact Info

Product

Resources

About