Noonan syndrome – a new survey
Identifieur interne : 000D50 ( Main/Exploration ); précédent : 000D49; suivant : 000D51Noonan syndrome – a new survey
Auteurs : Alireza Tafazoli [Iran] ; Peyman Eshraghi [Iran] ; Zahra Kamel Koleti [Iran] ; Mohammadreza Abbaszadegan [Iran]Source :
- Archives of Medical Science : AMS [ 1734-1922 ] ; 2016.
Abstract
Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, including LEOPARD syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. Germline mutations in the RAS-MAPK (mitogen-activated protein kinase) signal transduction pathway are responsible for NS and other related disorders. Noonan syndrome diagnosis is primarily based on clinical features, but molecular testing should be performed to confirm it in patients. Due to the high number of genes associated with NS and other RASopathy disorders, next-generation sequencing is the best choice for diagnostic testing. Patients with NS also have higher risk for leukemia and specific solid tumors. Age-specific guidelines for the management of NS are available.
Url:
DOI: 10.5114/aoms.2017.64720
PubMed: 28144274
PubMed Central: 5206377
Affiliations:
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Iran</nlm:aff><country xml:lang="fr">Iran</country><wicri:regionArea>Medical Genetics Research Center, Medical School, Mashhad University of Medical Sciences, Mashhad</wicri:regionArea><wicri:noRegion>Mashhad</wicri:noRegion></affiliation></author><author><name sortKey="Eshraghi, Peyman" sort="Eshraghi, Peyman" uniqKey="Eshraghi P" first="Peyman" last="Eshraghi">Peyman Eshraghi</name><affiliation wicri:level="1"><nlm:aff id="aff0002">Department of Pediatrics, Imam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, Iran</nlm:aff><country xml:lang="fr">Iran</country><wicri:regionArea>Department of Pediatrics, Imam Reza Hospital, Mashhad University of Medical Sciences, Mashhad</wicri:regionArea><wicri:noRegion>Mashhad</wicri:noRegion></affiliation></author><author><name sortKey="Koleti, Zahra Kamel" sort="Koleti, Zahra Kamel" uniqKey="Koleti Z" first="Zahra Kamel" last="Koleti">Zahra Kamel Koleti</name><affiliation wicri:level="1"><nlm:aff id="aff0003">Department of Pathology and Medical laboratory, Shohada Hospital, Mazandaran University of Medical Sciences, Sari, Iran</nlm:aff><country xml:lang="fr">Iran</country><wicri:regionArea>Department of Pathology and Medical laboratory, Shohada Hospital, Mazandaran University of Medical Sciences, Sari</wicri:regionArea><wicri:noRegion>Sari</wicri:noRegion></affiliation></author><author><name sortKey="Abbaszadegan, Mohammadreza" sort="Abbaszadegan, Mohammadreza" uniqKey="Abbaszadegan M" first="Mohammadreza" last="Abbaszadegan">Mohammadreza Abbaszadegan</name><affiliation wicri:level="1"><nlm:aff id="aff0004">Division of Human Genetics, Immunology Research Center, Avicenna Research Institute, Mashhad University of Medical Sciences, Mashhad, Iran</nlm:aff><country xml:lang="fr">Iran</country><wicri:regionArea>Division of Human Genetics, Immunology Research Center, Avicenna Research Institute, Mashhad University of Medical Sciences, Mashhad</wicri:regionArea><wicri:noRegion>Mashhad</wicri:noRegion></affiliation></author></analytic><series><title level="j">Archives of Medical Science : AMS</title><idno type="ISSN">1734-1922</idno><idno type="eISSN">1896-9151</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, including LEOPARD syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. Germline mutations in the RAS-MAPK (mitogen-activated protein kinase) signal transduction pathway are responsible for NS and other related disorders. Noonan syndrome diagnosis is primarily based on clinical features, but molecular testing should be performed to confirm it in patients. Due to the high number of genes associated with NS and other RASopathy disorders, next-generation sequencing is the best choice for diagnostic testing. Patients with NS also have higher risk for leukemia and specific solid tumors. 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Janin</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bentires Alj, M" uniqKey="Bentires Alj M">M Bentires-Alj</name></author><author><name sortKey="Paez, Jg" uniqKey="Paez J">JG Paez</name></author><author><name sortKey="David, Fs" uniqKey="David F">FS David</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Miyamoto, D" uniqKey="Miyamoto D">D Miyamoto</name></author><author><name sortKey="Miyamoto, M" uniqKey="Miyamoto M">M Miyamoto</name></author><author><name sortKey="Takahashi, A" uniqKey="Takahashi A">A Takahashi</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Noonan, Ja" uniqKey="Noonan J">JA Noonan</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Iran</li></country></list><tree><country name="Iran"><noRegion><name sortKey="Tafazoli, Alireza" sort="Tafazoli, Alireza" uniqKey="Tafazoli A" first="Alireza" last="Tafazoli">Alireza Tafazoli</name></noRegion><name sortKey="Abbaszadegan, Mohammadreza" sort="Abbaszadegan, Mohammadreza" uniqKey="Abbaszadegan M" first="Mohammadreza" last="Abbaszadegan">Mohammadreza Abbaszadegan</name><name sortKey="Eshraghi, Peyman" sort="Eshraghi, Peyman" uniqKey="Eshraghi P" first="Peyman" last="Eshraghi">Peyman Eshraghi</name><name sortKey="Koleti, Zahra Kamel" sort="Koleti, Zahra Kamel" uniqKey="Koleti Z" first="Zahra Kamel" last="Koleti">Zahra Kamel Koleti</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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