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 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> If chip based-testing is not available, PTPN11 sequencing should be performed first. If PTPN11 is negative considering other genes | 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> If chip based-testing is not available, PTPN11 sequencing should be performed first. If PTPN11 is negative considering other genes can be based on the clinical findings detailed below:<ref name="pmid20876176">{{cite journal| author=Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME et al.| title=Noonan syndrome: clinical features, diagnosis, and management guidelines. | journal=Pediatrics | year= 2010 | volume= 126 | issue= 4 | pages= 746-59 | pmid=20876176 | doi=10.1542/peds.2009-3207 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20876176 }} </ref> | ||
* SOS1: Absent developmental delays, normal stature, skin and hair findings | * '''SOS1''': Absent developmental delays, normal stature, skin and hair findings | ||
* RAF1: Hypertrophic cardiomyopathy | * '''RAF1''': Hypertrophic cardiomyopathy | ||
* KRAS: Significant developmental delay and cognitive impairment | * '''KRAS''': Significant developmental delay and cognitive impairment | ||
* SHOC2: Thin, slow-growing, sparse hair | * '''SHOC2''': Thin, slow-growing, sparse hair | ||
Not all patients require genetic testing as the diagnosis is mostly clinical. A positive genetic test can confirm the diagnosis, but a negative test cannot exclude it.<ref name="pmid20876176">{{cite journal| author=Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME et al.| title=Noonan syndrome: clinical features, diagnosis, and management guidelines. | journal=Pediatrics | year= 2010 | volume= 126 | issue= 4 | pages= 746-59 | pmid=20876176 | doi=10.1542/peds.2009-3207 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20876176 }} </ref> | Not all patients require genetic testing as the diagnosis is mostly clinical. A positive genetic test can confirm the diagnosis, but a negative test cannot exclude it.<ref name="pmid20876176">{{cite journal| author=Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME et al.| title=Noonan syndrome: clinical features, diagnosis, and management guidelines. | journal=Pediatrics | year= 2010 | volume= 126 | issue= 4 | pages= 746-59 | pmid=20876176 | doi=10.1542/peds.2009-3207 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20876176 }} </ref> | ||
Revision as of 01:00, 15 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] If chip based-testing is not available, PTPN11 sequencing should be performed first. If PTPN11 is negative considering other genes can be based on the clinical findings detailed below:[2]
- SOS1: Absent developmental delays, normal stature, skin and hair findings
- RAF1: Hypertrophic cardiomyopathy
- KRAS: Significant developmental delay and cognitive impairment
- SHOC2: Thin, slow-growing, sparse hair
Not all patients require genetic testing as the diagnosis is mostly clinical. A positive genetic test can confirm the diagnosis, but a negative test cannot exclude it.[2]
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.
- ↑ 2.0 2.1 Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME; et al. (2010). "Noonan syndrome: clinical features, diagnosis, and management guidelines". Pediatrics. 126 (4): 746–59. doi:10.1542/peds.2009-3207. PMID 20876176.
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