PubMed · 11628164
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J V Uriburu, E T Bernardello, J A Gesualdi. 1969. [Not Available].. https://pubmed.ncbi.nlm.nih.gov/11628164/
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Introduction. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by the loss of the SMN1 gene, with a variable clinical spectrum determined primarily by the number of copies of the SMN2 gene. The development of new therapies underscores the importance of early molecular diagnosis and genotype-phenotype characterization. Objective. To describe 27 years of experience in the molecular diagnosis of SMA at a pediatric referral hospital in Argentina and to evaluate the correlation between SMN2 copy number and the SMA types.Population and methods. A retrospective descriptive study was conducted on 1060 pediatric patients with clinically suspected SMA who were evaluated between 1997 and 2024. Molecular diagnosis was performed using PCR-RFLP and, since 2012, MLPA to determine SMN1 and SMN2 copy number. Genotype-phenotype correlation was evaluated in 260 patients with complete clinical characterization. Results. The diagnosis was confirmed in 513 patients. A homozygous deletion of the SMN1 gene was detected in 99.6% of unrelated cases. The positivity rate increased over time. A significant correlation was observed between the number of SMN2 copies and the type of SMA, with milder phenotypes associated with a higher number of copies. Conclusion. Molecular diagnosis of SMA enabled accurate and timely characterization of patients, avoiding invasive procedures and optimizing therapeutic decision-making. Genotype-phenotype correlation is a fundamental tool for prognosis and clinical management, highlighting the importance of an interdisciplinary approach.
Human T-cell lymphotropic virus (HTLV) seroindeterminate cases have been reported among blood donors (BD) and in at-risk populations worldwide, including Argentina. The objective of the present work was to study the presence of HTLV-I/II infection and its association to specific Western blot (WB) patterns among healthy BD and at-risk populations in Argentina. We analyzed 83 HTLV-I/II seroindeterminate WB cases diagnosed among BD (n = 49) and in different at-risk populations (n = 34) for human retroviruses infections. Multiple indeterminate WB patterns were observed. Out of the total, 13.2% (11/83) of the cases were found to be HTLV-I/II positive by nested-PCR (n-PCR), including 13.2% (11/83) HTLV-I and 2.4% (2/83) presenting HTLV-I and -II co-infection. Most of their serological profiles showed reactivity to gag or env codified proteins. Two samples amplified only one of the six analyzed genes (1 HTLV-I pol gene and 1 HTLV-II tax gene). There was no association between the presence of Trypanosoma cruzi infection and an HTLV-I/II indeterminate WB pattern (only 3 of the 83 samples were positive for T. cruzi antibodies). In conclusion, the majority of HTLV-seroindeterminate WB donors lacked HTLV provirus and was thus considered uninfected. However, when seroreactivity to Env and Gag proteins are observed on the WB and especially in at-risk populations, HTLV infection should be suspected; such individuals should be followed-up and retested.
Fragile-X-syndrome (FXS) is the most common type of inherited cognitive impairment. The underlying molecular alteration consists of a CGG-repeat amplification within the FMR-1 gene. The phenotype is only apparent once a threshold in the number of repeats has been exceeded (full mutation). The aim of this study was to characterize the FMR-1 CGG-repeat status in Argentine patients exhibiting mental retardation. A total of 330 blood samples from patients were analyzed by PCR and Southern blot analysis. Initially, DNA from 78 affected individuals were studied by PCR. Since this method is unable to detect high molecular weight alleles, however, we undertook a second approach using the Southern blotting technique to analyze the CGG repeat number and methylation status. Southern blot analysis showed an altered pattern in 14 out of 240 (6%) unrelated patients, with half of them presenting a mosaic pattern. Eight out of 17 families (47%) showed a (suggest deleting highlight). The characteristic FXS pattern was identified in 8/17 families (47%), and in 4 of these families 25% of the individuals presented with a mosaic model. The expansion from pre-mutation to full mutation was shown to occur both at the pre and post zygotic levels. The detection of FXS mutations has allowed us to offer more informed genetic counseling, prenatal diagnosis and reliable patient follow-up.