PCR-RFLP, Sequencing, and Quantification in Molecular Diagnosis of Spinal Muscular Atrophy: Limits and Advantages

Hamzi, Khalil; Bellayou, H.; Itri, Mohammed; Nadifi, Sellama

doi:10.1007/s12031-012-9944-9

Cited by 7 publications

(3 citation statements)

References 8 publications

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“…In our study, the average age of our patients was 9±9 with extremes of 3 months to 32 months. The median was 6.5 months, which is close to the study done in Morocco [6] and that in Chile [7]. On the other hand, the study carried out in Portugal [8] reported that the age of diagnosis was between 0 and 2 years.…”

Section: Epidemiological Aspectssupporting

confidence: 77%

Infantile Spinal Muscular Atrophy at the Albert Royer National Children&#8217;s Hospital Center in Dakar

Diagne,

Bop,

Dieye

et al. 2024

OJPed

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Introduction: Infantile spinal muscular atrophy (ISA) is an autosomal recessive disease caused by primary degeneration of cells in the anterior horn of the spinal cord, leading to muscle weakness and hypotonia. Its incidence is estimated at 1 in 6000 births worldwide. In Africa, particularly in Senegal, there are few studies interested on this pathology. We therefore deemed this study necessary, which set itself the objective of describing the diagnostic, therapeutic and progressive aspects of infantile spinal muscular atrophy at the Albert Royer National Children's Hospital Center in Dakar (CHNEAR). Methodology: We conducted a retrospective descriptive study over a period of two (2) years from December 2020 to December 2022. Included were all hospitalized patients in whom the diagnosis of spinal muscular atrophy was made with or without genetic confirmation. The data were collected on a pre-established form then entered and analyzed with the following software: Excel 2013 and R version 4.1.3. Results: During our study period, 2100 children were hospitalized, the annual incidence was 0.76%. The average age of our patients was 9 ± 9 months with a range of 3 months to 32 months and the median was 6.5 months. The sex ratio was 7. The notion of family consanguinity was found in 62.5% of cases and the notion of ISA in the family in 25% of cases. Hypotonia and respiratory distress were found at the forefront in equal proportions (50% of cases). Electromyogram (EMG) was performed in 3 patients (37.5%). Symptomatic medical treatment was administered in 100% of patients, 04 patients had benefited from respiratory physiotherapy, i.e. 50% of cases, and genetic counseling was carried out in one patient (12.5%). The evolution was immediately favorable in 2 patients or 25% of cases, unfavorable in 75% of cases with a death rate of 50% and the average age of death was 5.5 months ± 1 with extremes ranging from 3 to 7 months.

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Section: Epidemiological Aspectssupporting

confidence: 77%

Infantile Spinal Muscular Atrophy at the Albert Royer National Children&#8217;s Hospital Center in Dakar

Diagne,

Bop,

Dieye

et al. 2024

OJPed

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“…The choice of genotyping method generally depends on individual experiment design. 25,26 Among these included studies, there is no any superiority of these genotyping methods on one another for detecting IL-6 polymorphisms.…”

Section: The Selection Flow and Characteristics Of Eligible Studiesmentioning

confidence: 99%

Association of interleukin-6 gene polymorphisms and glaucoma: Systematic review and meta-analysis

Yang

Wang

et al. 2020

European Journal of Ophthalmology

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Aim: To conduct a systematic review and meta-analysis to explore the association between IL-6 gene polymorphisms ( rs1800795 and rs1524107) and glaucoma. Methods: A comprehensive search was performed to select eligible studies regarding IL-6 polymorphisms and glaucoma. The effect sizes in the fixed-effects model were calculated using odds ratios (ORs) with 95% confidence intervals (CIs). Results: Four eligible studies comprising 762 cases and 799 controls were selected for meta-analysis. Regarding the association between the IL-6 rs1800795 polymorphism and glaucoma, those who carried the G/G+G/C genotypes had a non-significant higher risk of glaucoma (OR = 1.29, 95% CI = 0.76–2.19) in the dominant model. However, no obvious association (OR = 0.97, 95% CI = 0.68–1.37) was found for the recessive model (G/G vs G/C+C/C). In the subgroup analysis stratified by ethnicity, no significant associations were observed in populations of Asian or European heritage. Significantly higher glaucoma risks of 15.9 and 99.0 were observed for the dominant (C/C+C/T vs T/T) and recessive (C/C vs C/T+T/T) models, respectively. Conclusion: No statistically significant glaucoma risks were observed for the rs1800795 except rs1524107 polymorphism of IL-6. Further studies with a larger sample size are required to validate the effects of IL-6 polymorphisms on glaucoma risk.

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“…Sanger sequencing is considered the gold standard for mutation screening, but is costly and time-consuming for large-scale sequencing. PCR-based methods are only applicable to single diseases, such as spinal muscular atrophy (SMA) and Prader-Willi syndrome 7 8 9 10 11 , leading to a low diagnosis rate. NGS is the newest, most efficient technology for the screening and detection of genetic variation.…”

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confidence: 99%

Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population

Wang

Wei

Guo³

et al. 2016

Sci Rep

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Neonatal hypotonia is extremely challenging to diagnose because numerous disorders present similar clinical manifestations. Two panels for diagnosing neonatal hypotonia were developed, which enriches 35 genes corresponding to 61 neonatal hypotonia-related disorders. A cohort of 214 neonates with hypotonia was recruited from 2012 to 2014 in China for this study. Of these subjects, twenty-eight neonates with hypotonia were eliminated according to exclusion criteria and 97 were confirmed using traditional detection methods. The clinical diagnoses of the remaining 89 neonates with hypotonia were approached by targeted next-generation sequencing (NGS). Among the 89 tested neonates, 25 potentially pathogenic variants in nine genes (RYR1, MECP2, MUT, CDKL5, MPZ, PMM2, MTM1, LAMA2 and DMPK) were identified in 22 patients. Six of these pathogenic variants were novel. Of the 186 neonates with hypotonia, we identified the genetic causes for 117 neonates by the traditional detection methods and targeted NGS, achieving a high solving rate of 62.9%. In addition, we found seven neonates with RETT syndrome carrying five mutations, thus expanding the mutation profiles in Chinese neonates with hypotonia. Our study highlights the utility of comprehensive molecular genetic testing, which provides the advantage of speed and diagnostic specificity without invasive procedures.

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PCR-RFLP, Sequencing, and Quantification in Molecular Diagnosis of Spinal Muscular Atrophy: Limits and Advantages

Cited by 7 publications

References 8 publications

Infantile Spinal Muscular Atrophy at the Albert Royer National Children&#8217;s Hospital Center in Dakar

Infantile Spinal Muscular Atrophy at the Albert Royer National Children&#8217;s Hospital Center in Dakar

Association of interleukin-6 gene polymorphisms and glaucoma: Systematic review and meta-analysis

Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population

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PCR-RFLP, Sequencing, and Quantification in Molecular Diagnosis of Spinal Muscular Atrophy: Limits and Advantages

Cited by 7 publications

References 8 publications

Infantile Spinal Muscular Atrophy at the Albert Royer National Children&amp;#8217;s Hospital Center in Dakar

Infantile Spinal Muscular Atrophy at the Albert Royer National Children&amp;#8217;s Hospital Center in Dakar

Association of interleukin-6 gene polymorphisms and glaucoma: Systematic review and meta-analysis

Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population

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Infantile Spinal Muscular Atrophy at the Albert Royer National Children’s Hospital Center in Dakar

Infantile Spinal Muscular Atrophy at the Albert Royer National Children’s Hospital Center in Dakar