Spinal Muscular atrophy carrier testing and newborn screening: Difference between revisions
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{{ | {{Spinal Muscular Atrophy}} | ||
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PCR-based dosage assay – Detect Carrier parents of patients with homozygous deletions or compound heterozygosity. | |||
Sequencing of the SMN gene - Detect point mutations. | '''Carrier testing'''<ref name="pmid9199562">{{cite journal| author=McAndrew PE, Parsons DW, Simard LR, Rochette C, Ray PN, Mendell JR et al.| title=Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. | journal=Am J Hum Genet | year= 1997 | volume= 60 | issue= 6 | pages= 1411-22 | pmid=9199562 | doi=10.1086/515465 | pmc=PMC1716150 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9199562 }} </ref>, <ref name="pmid15586177">{{cite journal| author=Eggermann T, Zerres K, Anhuf D, Kotzot D, Fauth C, Rudnik-Schöneborn S| title=Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene. | journal=Eur J Hum Genet | year= 2005 | volume= 13 | issue= 3 | pages= 309-13 | pmid=15586177 | doi=10.1038/sj.ejhg.5201268 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15586177 }} </ref>, <ref name="pmid17761649">{{cite journal| author=Prior TW| title=Spinal muscular atrophy diagnostics. | journal=J Child Neurol | year= 2007 | volume= 22 | issue= 8 | pages= 952-6 | pmid=17761649 | doi=10.1177/0883073807305668 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17761649 }} </ref> - [[Carrier testing]] helps to identify parents of SMA patients, who are carrier of the mutated genes. This can help to predict the future pregnancies in the parents. | ||
Other methods - family linkage analysis to identify the Parents genotype.==References== | |||
*'''PCR-based dosage assay''' – Detect Carrier parents of patients with homozygous deletions or compound heterozygosity. | |||
*'''Sequencing of the SMN gene''' - Detect point mutations. | |||
*'''Other methods''' - '''[[family linkage analysis]]''' to identify the Parents genotype. | |||
'''[[New Born screening]]'''<ref name="pmid17761649">{{cite journal| author=Prior TW| title=Spinal muscular atrophy diagnostics. | journal=J Child Neurol | year= 2007 | volume= 22 | issue= 8 | pages= 952-6 | pmid=17761649 | doi=10.1177/0883073807305668 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17761649 }} </ref> may help to identify pre-symptomatic individuals and institution of early treatment (once it becomes available). This can prevent the occurrence of severe disease forms in future. | |||
==References== | |||
{{Reflist|2}} | {{Reflist|2}} | ||
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* [http://www.jtsma.org.uk Jennifer Trust for Spinal Muscular Atrophy] - A national charity in the UK dedicated both to supporting people affected by SMA, and investing in essential research into causes, treatments and eventually a cure for the condition | * [http://www.jtsma.org.uk Jennifer Trust for Spinal Muscular Atrophy] - A national charity in the UK dedicated both to supporting people affected by SMA, and investing in essential research into causes, treatments and eventually a cure for the condition | ||
{{Diseases of the nervous system}} | {{Diseases of the nervous system}} | ||
[[Category:Motor neuron disease]] | [[Category:Motor neuron disease]] | ||
Latest revision as of 16:12, 20 August 2012
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Carrier testing[1], [2], [3] - Carrier testing helps to identify parents of SMA patients, who are carrier of the mutated genes. This can help to predict the future pregnancies in the parents.
- PCR-based dosage assay – Detect Carrier parents of patients with homozygous deletions or compound heterozygosity.
- Sequencing of the SMN gene - Detect point mutations.
- Other methods - family linkage analysis to identify the Parents genotype.
New Born screening[3] may help to identify pre-symptomatic individuals and institution of early treatment (once it becomes available). This can prevent the occurrence of severe disease forms in future.
References
- ↑ McAndrew PE, Parsons DW, Simard LR, Rochette C, Ray PN, Mendell JR; et al. (1997). "Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number". Am J Hum Genet. 60 (6): 1411–22. doi:10.1086/515465. PMC 1716150. PMID 9199562.
- ↑ Eggermann T, Zerres K, Anhuf D, Kotzot D, Fauth C, Rudnik-Schöneborn S (2005). "Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene". Eur J Hum Genet. 13 (3): 309–13. doi:10.1038/sj.ejhg.5201268. PMID 15586177.
- ↑ 3.0 3.1 Prior TW (2007). "Spinal muscular atrophy diagnostics". J Child Neurol. 22 (8): 952–6. doi:10.1177/0883073807305668. PMID 17761649.
External links
- Template:NINDS
- SMA Support
- Spinal Muscular Atrophy - Fight SMA - An international nonprofit dedicated to finding a treatment or cure for spinal muscular atrophy. Visit Fight SMA's website and also the Spinal Muscular Atrophy Blog for the latest news and research information about the leading genetic killer of children under two.
- Families of Spinal Muscular Atrophy - An international nonprofit dedicated to advancing research and supporting individuals and families with sma. FSMA has a web site with news, information and message boards for individuals to post questions. FSMA is one of the largest US private funders of SMA research and has more than 30 chapters worldwide.FSMA
- SMA Trust - a UK registered charity working to fund medical research into Spinal Muscular Atrophy
- Jennifer Trust for Spinal Muscular Atrophy - A national charity in the UK dedicated both to supporting people affected by SMA, and investing in essential research into causes, treatments and eventually a cure for the condition
Template:Diseases of the nervous system
da:Spinal muskulær atrofi de:Spinale Muskelatrophie el:Νωτιαία μυϊκή ατροφία nl:Spinale Musculaire Atrofieën fi:Spinaaliset lihasatrofiat sv:Spinal muskelatrofi