Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study
Noonan syndrome (NS) has been associated with an increased risk of lymphatic anomalies, with an estimated prevalence of 20%. The prevalence of lymphatic anomalies seems to differ between pathogenic variants. Therefore, this study aims to describe the clinical presentation, prevalence and genotype–ph...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2022-11, Vol.188 (11), p.3242-3261 |
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| container_title | American journal of medical genetics. Part A |
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| creator | Swarts, Jessie W. Kleimeier, Lotte E. R. Leenders, Erika K. S. M Rinne, Tuula Klein, Willemijn M. Draaisma, Jos M. T. |
| description | Noonan syndrome (NS) has been associated with an increased risk of lymphatic anomalies, with an estimated prevalence of 20%. The prevalence of lymphatic anomalies seems to differ between pathogenic variants. Therefore, this study aims to describe the clinical presentation, prevalence and genotype–phenotype correlations of lymphatic anomalies during life in patients with NS. This retrospective cohort study included patients (n = 115) who were clinically and genetically diagnosed with NS and visited the Noonan expertise Center of the Radboud University Medical Center between January 2015 and March 2021. Data on lymphatic anomalies during lifetime were obtained from medical records. Lymphatic anomalies most often presented as an increased nuchal translucency, chylothorax and/or lymphedema. Prenatal lymphatic anomalies increased the risk of lymphatic anomalies during infancy (OR 4.9, 95% CI 1.7–14.6). The lifetime prevalence of lymphatic anomalies was 37%. Genotype–phenotype correlations showed an especially high prevalence of lymphatic anomalies during infancy and childhood in patients with a pathogenic SOS2 variant (p = 0.03 and p |
| doi_str_mv | 10.1002/ajmg.a.62955 |
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R. ; Leenders, Erika K. S. M ; Rinne, Tuula ; Klein, Willemijn M. ; Draaisma, Jos M. T.</creator><creatorcontrib>Swarts, Jessie W. ; Kleimeier, Lotte E. R. ; Leenders, Erika K. S. M ; Rinne, Tuula ; Klein, Willemijn M. ; Draaisma, Jos M. T.</creatorcontrib><description>Noonan syndrome (NS) has been associated with an increased risk of lymphatic anomalies, with an estimated prevalence of 20%. The prevalence of lymphatic anomalies seems to differ between pathogenic variants. Therefore, this study aims to describe the clinical presentation, prevalence and genotype–phenotype correlations of lymphatic anomalies during life in patients with NS. This retrospective cohort study included patients (n = 115) who were clinically and genetically diagnosed with NS and visited the Noonan expertise Center of the Radboud University Medical Center between January 2015 and March 2021. Data on lymphatic anomalies during lifetime were obtained from medical records. Lymphatic anomalies most often presented as an increased nuchal translucency, chylothorax and/or lymphedema. Prenatal lymphatic anomalies increased the risk of lymphatic anomalies during infancy (OR 4.9, 95% CI 1.7–14.6). The lifetime prevalence of lymphatic anomalies was 37%. Genotype–phenotype correlations showed an especially high prevalence of lymphatic anomalies during infancy and childhood in patients with a pathogenic SOS2 variant (p = 0.03 and p < 0.01, respectively). This study shows that patients with NS have a high predisposition for developing lymphatic anomalies during life. Especially patients with prenatal lymphatic anomalies have an increased risk of lymphatic anomalies during infancy. Genotype–phenotype correlations were found in pathogenic variants in SOS2.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.62955</identifier><identifier>PMID: 35979676</identifier><language>eng</language><publisher>Hoboken, USA: John Wiley & Sons, Inc</publisher><subject>Children ; Cohort analysis ; Female ; Genetic Association Studies ; Genotype ; Genotype & phenotype ; Genotypes ; Humans ; lymphatic anomalies ; Lymphedema ; Medical records ; Noonan syndrome ; Noonan Syndrome - complications ; Noonan Syndrome - epidemiology ; Noonan Syndrome - genetics ; Noonan's syndrome ; Original ; Patients ; Phenotypes ; postnatal ; Pregnancy ; prenatal ; Retrospective Studies</subject><ispartof>American journal of medical genetics. Part A, 2022-11, Vol.188 (11), p.3242-3261</ispartof><rights>2022 The Authors. published by Wiley Periodicals LLC.</rights><rights>2022 The Authors. 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R.</creatorcontrib><creatorcontrib>Leenders, Erika K. S. M</creatorcontrib><creatorcontrib>Rinne, Tuula</creatorcontrib><creatorcontrib>Klein, Willemijn M.</creatorcontrib><creatorcontrib>Draaisma, Jos M. T.</creatorcontrib><title>Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study</title><title>American journal of medical genetics. Part A</title><addtitle>Am J Med Genet A</addtitle><description>Noonan syndrome (NS) has been associated with an increased risk of lymphatic anomalies, with an estimated prevalence of 20%. The prevalence of lymphatic anomalies seems to differ between pathogenic variants. Therefore, this study aims to describe the clinical presentation, prevalence and genotype–phenotype correlations of lymphatic anomalies during life in patients with NS. This retrospective cohort study included patients (n = 115) who were clinically and genetically diagnosed with NS and visited the Noonan expertise Center of the Radboud University Medical Center between January 2015 and March 2021. Data on lymphatic anomalies during lifetime were obtained from medical records. Lymphatic anomalies most often presented as an increased nuchal translucency, chylothorax and/or lymphedema. Prenatal lymphatic anomalies increased the risk of lymphatic anomalies during infancy (OR 4.9, 95% CI 1.7–14.6). The lifetime prevalence of lymphatic anomalies was 37%. Genotype–phenotype correlations showed an especially high prevalence of lymphatic anomalies during infancy and childhood in patients with a pathogenic SOS2 variant (p = 0.03 and p < 0.01, respectively). This study shows that patients with NS have a high predisposition for developing lymphatic anomalies during life. Especially patients with prenatal lymphatic anomalies have an increased risk of lymphatic anomalies during infancy. Genotype–phenotype correlations were found in pathogenic variants in SOS2.</description><subject>Children</subject><subject>Cohort analysis</subject><subject>Female</subject><subject>Genetic Association Studies</subject><subject>Genotype</subject><subject>Genotype & phenotype</subject><subject>Genotypes</subject><subject>Humans</subject><subject>lymphatic anomalies</subject><subject>Lymphedema</subject><subject>Medical records</subject><subject>Noonan syndrome</subject><subject>Noonan Syndrome - complications</subject><subject>Noonan Syndrome - epidemiology</subject><subject>Noonan Syndrome - genetics</subject><subject>Noonan's syndrome</subject><subject>Original</subject><subject>Patients</subject><subject>Phenotypes</subject><subject>postnatal</subject><subject>Pregnancy</subject><subject>prenatal</subject><subject>Retrospective Studies</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>24P</sourceid><sourceid>EIF</sourceid><recordid>eNp9kc1vFCEYh4nR2Np682xIvHhwVz4GmPFgsmnsh1k1MXpGBphdNjMwBabN_PfSbrtRD16AhCdP3t_7A-AVRkuMEHmvdsNmqZacNIw9AceYMbKoakqfHt6EHYEXKe0QoogJ_hwcUdaIhgt-DH6t52Hcquw0VD4Mqnc2QTNF5zewd53NbrDQeTgWxPqc4K3LW_g1BK88TLM3MQz2A_xucwxptDq7Gwt12IaYYcqTmU_Bs071yb58uE_Az_NPP84uF-tvF1dnq_VCV0ywBRbUKmow0Ya0rG04YkTxtpxYG61UTQzpeGeqDuOSiOBGU8s1Rp2gLcaUnoCPe-84tYM1ugwbVS_H6AYVZxmUk3__eLeVm3AjmxpVAjdF8PZBEMP1ZFOWg0va9r3yNkxJEoFoU1e0FgV98w-6C1P0JV6hCBEVJxUr1Ls9pctqUrTdYRiM5F118q46qeR9dQV__WeAA_zYVQGqPXDrejv_VyZXn79crPbe3-top7w</recordid><startdate>202211</startdate><enddate>202211</enddate><creator>Swarts, Jessie W.</creator><creator>Kleimeier, Lotte E. 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M ; Rinne, Tuula ; Klein, Willemijn M. ; Draaisma, Jos M. T.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4575-173ea3d12cd2b5b96052a6b0521cdcaa82d2f6fd4f11482219c3e6c10f73b1133</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Children</topic><topic>Cohort analysis</topic><topic>Female</topic><topic>Genetic Association Studies</topic><topic>Genotype</topic><topic>Genotype & phenotype</topic><topic>Genotypes</topic><topic>Humans</topic><topic>lymphatic anomalies</topic><topic>Lymphedema</topic><topic>Medical records</topic><topic>Noonan syndrome</topic><topic>Noonan Syndrome - complications</topic><topic>Noonan Syndrome - epidemiology</topic><topic>Noonan Syndrome - genetics</topic><topic>Noonan's syndrome</topic><topic>Original</topic><topic>Patients</topic><topic>Phenotypes</topic><topic>postnatal</topic><topic>Pregnancy</topic><topic>prenatal</topic><topic>Retrospective Studies</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Swarts, Jessie W.</creatorcontrib><creatorcontrib>Kleimeier, Lotte E. 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Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Swarts, Jessie W.</au><au>Kleimeier, Lotte E. R.</au><au>Leenders, Erika K. S. M</au><au>Rinne, Tuula</au><au>Klein, Willemijn M.</au><au>Draaisma, Jos M. T.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am J Med Genet A</addtitle><date>2022-11</date><risdate>2022</risdate><volume>188</volume><issue>11</issue><spage>3242</spage><epage>3261</epage><pages>3242-3261</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>Noonan syndrome (NS) has been associated with an increased risk of lymphatic anomalies, with an estimated prevalence of 20%. The prevalence of lymphatic anomalies seems to differ between pathogenic variants. Therefore, this study aims to describe the clinical presentation, prevalence and genotype–phenotype correlations of lymphatic anomalies during life in patients with NS. This retrospective cohort study included patients (n = 115) who were clinically and genetically diagnosed with NS and visited the Noonan expertise Center of the Radboud University Medical Center between January 2015 and March 2021. Data on lymphatic anomalies during lifetime were obtained from medical records. Lymphatic anomalies most often presented as an increased nuchal translucency, chylothorax and/or lymphedema. Prenatal lymphatic anomalies increased the risk of lymphatic anomalies during infancy (OR 4.9, 95% CI 1.7–14.6). The lifetime prevalence of lymphatic anomalies was 37%. Genotype–phenotype correlations showed an especially high prevalence of lymphatic anomalies during infancy and childhood in patients with a pathogenic SOS2 variant (p = 0.03 and p < 0.01, respectively). 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| subjects | Children Cohort analysis Female Genetic Association Studies Genotype Genotype & phenotype Genotypes Humans lymphatic anomalies Lymphedema Medical records Noonan syndrome Noonan Syndrome - complications Noonan Syndrome - epidemiology Noonan Syndrome - genetics Noonan's syndrome Original Patients Phenotypes postnatal Pregnancy prenatal Retrospective Studies |
| title | Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study |
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