Newborn and carrier screening for spinal muscular atrophy

@article{Prior2010NewbornAC,
  title={Newborn and carrier screening for spinal muscular atrophy},
  author={Thomas W. Prior and Pamela J. Snyder and Britton D. Rink and Dennis K. Pearl and Robert Pyatt and D C Mihal and Todd Conlan and Betsy Schmalz and Laura Montgomery and Katie Ziegler and Carolee Noonan and Sayaka Hashimoto and Shannon Garner},
  journal={American Journal of Medical Genetics Part A},
  year={2010},
  volume={152A}
}
Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron (SMN1) gene, affecting approximately 1 in 10,000 live births. [] Key Method During this study we performed two pilot projects addressing the clinical applicability of testing in the newborn period and carrier screening in the general population. We have demonstrated that an effective technology does exist for newborn screening of SMA. We also provide an estimate of the carrier…
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166 Citations

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Citation Type

Spinal muscular atrophy: a time for screening
  • T. Prior
  • Biology, Medicine
    Current opinion in pediatrics
  • 2010
TLDR
This review first describes the molecular genetics of SMA and then focuses on newborn screening, as a means of ensuring the earliest intervention, and the prevention through population carrier screening.
Strategy for the Molecular Testing of Spinal Muscular Atrophy
Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials
TLDR
A comprehensive and up-to‐date review integrating advances in molecular pathophysiology and diagnostic testing with therapeutic developments for this disease including promising candidates from recent clinical trials is provided.
Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance
TLDR
Population-based SMA carrier screening identifies carrier couples that may pass on this genetic disorder to their offspring and allows the carriers to make informed reproductive choices or prepare for immediate treatment for an affected child.
Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan
TLDR
The data showed that confirmed diagnosis by genetic testing was notably delayed, and the estimated incidence was 1 in 30,000–40,000 live births, which seemed notably lower than in other countries, suggesting that many diagnosis-delayed or undiagnosed cases may be present in Japan.
Spinal muscular atrophy – a revisit of the diagnosis and treatment modalities
TLDR
In this review, the concept of newer methodological system and recent advances for molecular diagnosis of SMA with the variability in the clinical features is stressed and the public health community should remain alert to the rapidly changing developments in early detection and treatment of the disease.
Newborn screening for spinal muscular atrophy: Anticipating an imminent need.
TLDR
A recent report demonstrated that SMA detection can be multiplexed at minimal additional cost with the assay for severe combined immunodeficiency, already implemented by many newborn screening programs.
Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review
TLDR
More robust epidemiological data on SMA covering larger populations based on accurate genetic diagnosis or newborn screening would be helpful to support planning of clinical studies, provision of care and therapies and evaluation of outcomes.
Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens
TLDR
Analysis of large-scale population carrier screening data demonstrates the technical feasibility of high throughput testing and provides mutation carrier and allele frequencies at a level of accuracy afforded by large data sets, and facilitates accurate pre- and post-test counseling in the settings of carrier screening and prenatal diagnosis for SMA.
Intelligent Ratio: A New Method for Carrier and Newborn Screening in Spinal Muscular Atrophy.
TLDR
The screening test presented in this study that uses FII as a reference gene proved to be low-cost, reliable, applicable, accurate, and amenable to use in an automated system for SMA screening.
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References

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Carrier screening for spinal muscular atrophy
  • T. Prior
  • Biology
    Genetics in Medicine
  • 2008
TLDR
It has been shown that the SMN2 copy number influences the severity of the disease, and it has been proposed that the extra SMN 2 in the more mildly affected patients arise through gene conversions, whereby theSMN2 gene is copied either partially or totally into the telomeric locus.
Genetic testing and risk assessment for spinal muscular atrophy (SMA)
Abstract. Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases, affecting approximately 1 in 10,000 live births, and with a carrier frequency of approximately 1 in 50.…
Population screening and cascade testing for carriers of SMA
TLDR
A multimodal approach involving quantitative analysis, linkage analysis and genetic risk assessment facilitates the resolution of SMA carrier status in individuals with a family history as well as individuals of the general population, providing couples with better choices in their family planning.
Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling
TLDR
Spinal muscular atrophy is characterised by degeneration of motor neurones of the anterior horn of the spinal cord, leading to symmetrical muscular weakness and atrophy, with several degrees of severity in the SMA phenotype, depending on the age of onset and motor development milestones.
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
TLDR
Given this uniform mutation spectrum, direct molecular genetic testing is an easy and rapid analysis for most of the SMA patients, and direct testing of heterozygotes, while not trivial, is compromised by the presence of two SMN1 copies per chromosome in about 4% of individuals.
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.
TLDR
A quantitative PCR assay is developed for the determination of SMNT and SMNC gene-copy number and demonstrates how risk estimates for the diagnosis and detection of SMA carriers can be modified by the accurate determination ofSMNT copy number.
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TLDR
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TLDR
It is reported that approximately 7% of unaffected individuals without a family history of SMA have three or four copies of SMN1, implying a higher frequency of chromosomes with two copies ofSMN1 than previously reported.
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
TLDR
SMN2 copy number is conclusively shown to ameliorate the phenotype and provide valuable prognostic information and Screening for intragenic mutations in SMN1 increases the sensitivity of diagnostic testing.
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene
TLDR
Most SMA cases are due to large genetic rearrangements in the repetitive region of the SMA locus, resulting in absence-dysfunction of the SMN1 gene, by contrast, ancestrally inherited small mutations are responsible for only a small number of cases.
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