Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.
Identifieur interne : 000861 ( PubMed/Corpus ); précédent : 000860; suivant : 000862Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.
Auteurs : Doris Milosavljevi ; Eline Overwater ; Saskia Tamminga ; Karin De Boer ; Mariet W. Elting ; Marion E. Van Hoorn ; Tuula Rinne ; Arjan C. HouwelingSource :
- American journal of medical genetics. Part A [ 1552-4833 ] ; 2016.
Abstract
Mutations in RIT1, involved in the RAS-MAPK pathway, have recently been identified as a cause for Noonan syndrome. We present two patients with Noonan syndrome caused by a RIT1 mutation with novel phenotypic manifestations, severe bilateral lower limb lymphedema starting during puberty, and fetal hydrops resulting in intrauterine fetal death, respectively. Including our patients, a total of 52 patients have been reported with Noonan syndrome caused by a RIT1 mutation. Our report contributes to the delineation of the phenotype associated with RIT1 mutations and underlines that lymphatic involvement is part of this spectrum. In addition, we provide an overview of the currently described Noonan syndrome patients with RIT1 mutations in literature. © 2016 Wiley Periodicals, Inc.
DOI: 10.1002/ajmg.a.37657
PubMed: 27109146
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Elting</name><affiliation><nlm:affiliation>Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Van Hoorn, Marion E" sort="Van Hoorn, Marion E" uniqKey="Van Hoorn M" first="Marion E" last="Van Hoorn">Marion E. Van Hoorn</name><affiliation><nlm:affiliation>Department of Obstetrics and Gynecology, VU University Medical Center, Amsterdam, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Rinne, Tuula" sort="Rinne, Tuula" uniqKey="Rinne T" first="Tuula" last="Rinne">Tuula Rinne</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Houweling, Arjan C" sort="Houweling, Arjan C" uniqKey="Houweling A" first="Arjan C" last="Houweling">Arjan C. Houweling</name><affiliation><nlm:affiliation>Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:27109146</idno><idno type="pmid">27109146</idno><idno type="doi">10.1002/ajmg.a.37657</idno><idno type="wicri:Area/PubMed/Corpus">000861</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000861</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.</title><author><name sortKey="Milosavljevi, Doris" sort="Milosavljevi, Doris" uniqKey="Milosavljevi D" first="Doris" last="Milosavljevi">Doris Milosavljevi</name><affiliation><nlm:affiliation>Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Overwater, Eline" sort="Overwater, Eline" uniqKey="Overwater E" first="Eline" last="Overwater">Eline Overwater</name><affiliation><nlm:affiliation>Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Tamminga, Saskia" sort="Tamminga, Saskia" uniqKey="Tamminga S" first="Saskia" last="Tamminga">Saskia Tamminga</name><affiliation><nlm:affiliation>Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="De Boer, Karin" sort="De Boer, Karin" uniqKey="De Boer K" first="Karin" last="De Boer">Karin De Boer</name><affiliation><nlm:affiliation>Department of Cardiology, VU University Medical Center, Amsterdam, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Elting, Mariet W" sort="Elting, Mariet W" uniqKey="Elting M" first="Mariet W" last="Elting">Mariet W. Elting</name><affiliation><nlm:affiliation>Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Van Hoorn, Marion E" sort="Van Hoorn, Marion E" uniqKey="Van Hoorn M" first="Marion E" last="Van Hoorn">Marion E. Van Hoorn</name><affiliation><nlm:affiliation>Department of Obstetrics and Gynecology, VU University Medical Center, Amsterdam, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Rinne, Tuula" sort="Rinne, Tuula" uniqKey="Rinne T" first="Tuula" last="Rinne">Tuula Rinne</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Houweling, Arjan C" sort="Houweling, Arjan C" uniqKey="Houweling A" first="Arjan C" last="Houweling">Arjan C. Houweling</name><affiliation><nlm:affiliation>Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.</nlm:affiliation></affiliation></author></analytic><series><title level="j">American journal of medical genetics. Part A</title><idno type="eISSN">1552-4833</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in RIT1, involved in the RAS-MAPK pathway, have recently been identified as a cause for Noonan syndrome. We present two patients with Noonan syndrome caused by a RIT1 mutation with novel phenotypic manifestations, severe bilateral lower limb lymphedema starting during puberty, and fetal hydrops resulting in intrauterine fetal death, respectively. Including our patients, a total of 52 patients have been reported with Noonan syndrome caused by a RIT1 mutation. Our report contributes to the delineation of the phenotype associated with RIT1 mutations and underlines that lymphatic involvement is part of this spectrum. In addition, we provide an overview of the currently described Noonan syndrome patients with RIT1 mutations in literature. © 2016 Wiley Periodicals, Inc.</div></front></TEI><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">27109146</PMID><DateCreated><Year>2016</Year><Month>06</Month><Day>17</Day></DateCreated><DateRevised><Year>2016</Year><Month>06</Month><Day>17</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1552-4833</ISSN><JournalIssue CitedMedium="Internet"><Volume>170</Volume><Issue>7</Issue><PubDate><Year>2016</Year><Month>Jul</Month></PubDate></JournalIssue><Title>American journal of medical genetics. Part A</Title><ISOAbbreviation>Am. J. Med. Genet. A</ISOAbbreviation></Journal><ArticleTitle>Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.</ArticleTitle><Pagination><MedlinePgn>1874-80</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/ajmg.a.37657</ELocationID><Abstract><AbstractText>Mutations in RIT1, involved in the RAS-MAPK pathway, have recently been identified as a cause for Noonan syndrome. We present two patients with Noonan syndrome caused by a RIT1 mutation with novel phenotypic manifestations, severe bilateral lower limb lymphedema starting during puberty, and fetal hydrops resulting in intrauterine fetal death, respectively. Including our patients, a total of 52 patients have been reported with Noonan syndrome caused by a RIT1 mutation. Our report contributes to the delineation of the phenotype associated with RIT1 mutations and underlines that lymphatic involvement is part of this spectrum. In addition, we provide an overview of the currently described Noonan syndrome patients with RIT1 mutations in literature. © 2016 Wiley Periodicals, Inc.</AbstractText><CopyrightInformation>© 2016 Wiley Periodicals, Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Milosavljević</LastName><ForeName>Doris</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Overwater</LastName><ForeName>Eline</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tamminga</LastName><ForeName>Saskia</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>de Boer</LastName><ForeName>Karin</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Department of Cardiology, VU University Medical Center, Amsterdam, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Elting</LastName><ForeName>Mariet W</ForeName><Initials>MW</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>van Hoorn</LastName><ForeName>Marion E</ForeName><Initials>ME</Initials><AffiliationInfo><Affiliation>Department of Obstetrics and Gynecology, VU University Medical Center, Amsterdam, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rinne</LastName><ForeName>Tuula</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Houweling</LastName><ForeName>Arjan C</ForeName><Initials>AC</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>04</Month><Day>25</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Am J Med Genet A</MedlineTA><NlmUniqueID>101235741</NlmUniqueID><ISSNLinking>1552-4825</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Noonan syndrome</Keyword><Keyword MajorTopicYN="N">RASopathy</Keyword><Keyword MajorTopicYN="N">RIT1</Keyword><Keyword MajorTopicYN="N">hydrops fetalis</Keyword><Keyword MajorTopicYN="N">lymphedema</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>01</Month><Day>14</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>03</Month><Day>20</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2016</Year><Month>4</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2016</Year><Month>4</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>4</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">27109146</ArticleId><ArticleId IdType="doi">10.1002/ajmg.a.37657</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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