Noonan syndrome other diagnostic studies: Difference between revisions
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==Other Diagnostic Studies== | ==Other Diagnostic Studies== | ||
===Genetic Analysis=== | ===Genetic Analysis=== | ||
Eight genes all involved in the RAS/MAP kinase pathway have been identified as possible causes for Noonan syndrome. In order of prevalence, the causative mutations involve the following genes: PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF, SHOC2, and CBL. Definitive diagnosis is usually with genetic testing which is commonly by chip-based sequencing, to | Eight genes all involved in the RAS/MAP kinase pathway have been identified as possible causes for Noonan syndrome. In order of prevalence, the causative mutations involve the following genes: PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF, SHOC2, and CBL. Definitive diagnosis is usually with genetic testing which is commonly by chip-based sequencing, to test all the genes that could be involved simultaneously. <ref name="pmid23312968">{{cite journal| author=Roberts AE, Allanson JE, Tartaglia M, Gelb BD| title=Noonan syndrome. | journal=Lancet | year= 2013 | volume= 381 | issue= 9863 | pages= 333-42 | pmid=23312968 | doi=10.1016/S0140-6736(12)61023-X | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23312968 }} </ref> | ||
==References== | ==References== | ||
Revision as of 19:55, 11 November 2013
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Serge Korjian
Overview
Other Diagnostic Studies
Genetic Analysis
Eight genes all involved in the RAS/MAP kinase pathway have been identified as possible causes for Noonan syndrome. In order of prevalence, the causative mutations involve the following genes: PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF, SHOC2, and CBL. Definitive diagnosis is usually with genetic testing which is commonly by chip-based sequencing, to test all the genes that could be involved simultaneously. [1]
References
- ↑ Roberts AE, Allanson JE, Tartaglia M, Gelb BD (2013). "Noonan syndrome". Lancet. 381 (9863): 333–42. doi:10.1016/S0140-6736(12)61023-X. PMID 23312968.
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