Spinal muscular atrophy in black South Africans: concordance with the universal SMN1 genotype

Wilmshurst, Jo M.; Reynolds, Lindsay M.; Toorn, Ronald van; Leisegang, Felicity; Henderson, Howard

doi:10.1034/j.1399-0004.2002.620210.x

Cited by 9 publications

(10 citation statements)

References 17 publications

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“…In this retrospective study, four of the patients recruited were suffering from SMA type 1, sixteen presented with SMA type 2, and ten were suffering from SMA type 3. Contrary to the earlier report [ 14 ], Wilmshurst and colleagues [ 15 ] reported 100% homozygous deletions of exon 7 or exons 7 and 8 of the SMN1 gene in all patients and concluded that the study subjects were not genetically or phenotypically different from internationally recognised forms of SMA. The differences in the outcomes of the two studies, though, could be due to the fact that the latter study excluded patients who showed facial musculature.…”

Section: Resultscontrasting

confidence: 73%

“…Wilmshurst et al [ 15 ] explored this further through genetic studies in thirty unrelated and racially diverse SMA patients (including 12 black patients) in the Western Cape area of South Africa. In this retrospective study, four of the patients recruited were suffering from SMA type 1, sixteen presented with SMA type 2, and ten were suffering from SMA type 3.…”

Section: Resultsmentioning

confidence: 99%

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Motor Neuron Diseases in Sub-Saharan Africa: The Need for More Population-Based Studies

Quansah

Karikari²

2015

BioMed Research International

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Motor neuron diseases (MNDs) are devastating neurological diseases that are characterised by gradual degeneration and death of motor neurons. Major types of MNDs include amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). These diseases are incurable, with limited disease-modifying treatment options. In order to improve MND-based biomedical research, drug development, and clinical care, population-based studies will be important. These studies, especially among less-studied populations, might identify novel factors controlling disease susceptibility and resistance. To evaluate progress in MND research in Africa, we examined the published literature on MNDs in Sub-Saharan Africa to identify disease prevalence, genetic factors, and other risk factors. Our findings indicate that the amount of research evidence on MNDs in Sub-Saharan Africa is scanty; molecular and genetics-based studies are particularly lacking. While only a few genetic studies were identified, these studies strongly suggest that there appear to be population-specific causes of MNDs among Africans. MND genetic underpinnings vary among different African populations and also between African and non-African populations. Further studies, especially molecular, genetic and genomic studies, will be required to advance our understanding of MND biology among African populations. Insights from these studies would help to improve the timeliness and accuracy of clinical diagnosis and treatment.

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Section: Resultscontrasting

confidence: 73%

Section: Resultsmentioning

confidence: 99%

Motor Neuron Diseases in Sub-Saharan Africa: The Need for More Population-Based Studies

Quansah

Karikari²

2015

BioMed Research International

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“…The frequency of small intragenic SMN1 mutations and/or of SMA unlinked to chromosome 5q13 may be higher in certain non-European populations, such as black South African patients [53], although data that do not support this hypothesis also exist [54].…”

Section: Smn1 Small Intragenic Mutationsmentioning

confidence: 94%

Spinal muscular atrophy: molecular genetics and diagnostics

Ogino¹,

Wilson²

2004

Expert Review of Molecular Diagnostics

133

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Spinal muscular atrophy is one of the most common autosomal recessive diseases, affecting approximately one in 10,000 live births and with a carrier frequency of approximately one in 50. Spinal muscular atrophy is caused by a deficiency of the ubiquitous protein survival of motor neuron (SMN), which is encoded by the SMN genes, SMN1 and SMN2. Due to a single nucleotide polymorphism (840C>T), SMN2 produces less full-length transcript than SMN1 and cannot entirely prevent neuronal cell death at physiologic gene dosages. The 38-kDa SMN protein comprises 294 amino acids and is involved in the biogenesis of uridine-rich small nuclear ribonucleoproteins, facilitating their cytoplasmic assembly into the spliceosome. Various animal models have been developed to study the pathogenesis of spinal muscular atrophy, as well as to test novel therapeutics. Common PCR-restriction fragment length polymorphism assays can detect the homozygous absence of SMN1 in approximately 94% of patients with clinically typical spinal muscular atrophy. SMN gene dosage analysis can determine the copy number of SMN1 to detect carriers and patients heterozygous for the absence of SMN1. Due to the genetic complexity and the high carrier frequency, accurate risk assessment and genetic counseling are particularly important. Comprehensive SMA genetic testing, combined with appropriate genetic counseling and risk assessment, provides the most complete evaluation of patients and their families at this time. New technologies, such as monosomal analysis techniques, may be widely available in the future.

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“…Within the last few years, there have been several reports on SMN and NAIP gene deletions in SMA patients of different ethnic origins: including French [3], Chinese [12], African [15], American [16] and many other groups. However, detailed information pertaining to the analysis of these genes in clinically diagnosed SMA patients from India is still lacking.…”

Section: Introductionmentioning

confidence: 99%

Study of Survival of Motor Neuron (SMN) and Neuronal Apoptosis Inhibitory Protein (NAIP) gene deletions in SMA patients

et al. 2005

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In view of the paucity of deletion studies of survival of motor neuron (SMN) and neuronal apoptosis inhibitor protein (NAIP) genes in Indian SMA patients, this study has been undertaken to determine the status of SMN1, SMN2 and NAIP gene deletions in Indian SMA patients. Clinically and neurophysiologically diagnosed SMA patients were included in the study. A gene deletion study was carried out in 45 proximal SMA patients and 50 controls of the same ethnic group. Both SMN1 and NAIP genes showed homozygous absence in 76% and 31% respectively in proximal SMA patients. It is proposed that the lower deletion frequency of SMN1 gene in Indian patients may be due to mutations present in other genes or population variation, which need further study.

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Spinal muscular atrophy in black South Africans: concordance with the universal SMN1 genotype

Cited by 9 publications

References 17 publications

Motor Neuron Diseases in Sub-Saharan Africa: The Need for More Population-Based Studies

Motor Neuron Diseases in Sub-Saharan Africa: The Need for More Population-Based Studies

Spinal muscular atrophy: molecular genetics and diagnostics

Study of Survival of Motor Neuron (SMN) and Neuronal Apoptosis Inhibitory Protein (NAIP) gene deletions in SMA patients

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