Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature
2005; Wiley; Volume: 134A; Issue: 2 Linguagem: Inglês
10.1002/ajmg.a.30598
ISSN1552-4833
AutoresMarjolijn C.J. Jongmans, Erik A. Sistermans, Alwin Rikken, Willy M. Nillesen, Rienk Tamminga, Michael A. Patton, Esther M. Maier, Marco Tartaglia, C. Noordam, Ineke van der Burgt,
Tópico(s)RNA modifications and cancer
ResumoAmerican Journal of Medical Genetics Part AVolume 134A, Issue 2 p. 165-170 Research Article Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature Marjolijn Jongmans, Marjolijn Jongmans Department of Human Genetics, Radboud University Nijmegen Medical Centre, The NetherlandsSearch for more papers by this authorErik A. Sistermans, Corresponding Author Erik A. Sistermans e.sistermans@antrg.umcn.nl Department of Human Genetics, Radboud University Nijmegen Medical Centre, The NetherlandsDepartment of Human Genetics, Radboud University Nijmegen Medical Centre, Geert Grooteplein Zuid 10, P. O. Box 9101, 6500 HB Nijmegen, The Netherlands.Search for more papers by this authorAlwin Rikken, Alwin Rikken Department of Human Genetics, Radboud University Nijmegen Medical Centre, The NetherlandsSearch for more papers by this authorWilly M. Nillesen, Willy M. Nillesen Department of Human Genetics, Radboud University Nijmegen Medical Centre, The NetherlandsSearch for more papers by this authorRienk Tamminga, Rienk Tamminga Department of Pediatric Oncology and Hematology, University Hospital Groningen, Beatrix Children's Hospital, The NetherlandsSearch for more papers by this authorMichael Patton, Michael Patton Department of Medical Genetics, St. George's Hospital Medical School University of London, United KingdomSearch for more papers by this authorEsther M. Maier, Esther M. Maier University of Munich, Dr. von Hauner Children's Hospital, GermanySearch for more papers by this authorMarco Tartaglia, Marco Tartaglia Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanità, Rome, Italy Department of Pediatrics, Mount Sinai School of Medicine, New YorkSearch for more papers by this authorKees Noordam, Kees Noordam University Medical Centre Nijmegen, Metabolic and Endocrine Disorders, The NetherlandsSearch for more papers by this authorIneke van der Burgt, Ineke van der Burgt Department of Human Genetics, Radboud University Nijmegen Medical Centre, The NetherlandsSearch for more papers by this author Marjolijn Jongmans, Marjolijn Jongmans Department of Human Genetics, Radboud University Nijmegen Medical Centre, The NetherlandsSearch for more papers by this authorErik A. Sistermans, Corresponding Author Erik A. Sistermans e.sistermans@antrg.umcn.nl Department of Human Genetics, Radboud University Nijmegen Medical Centre, The NetherlandsDepartment of Human Genetics, Radboud University Nijmegen Medical Centre, Geert Grooteplein Zuid 10, P. O. Box 9101, 6500 HB Nijmegen, The Netherlands.Search for more papers by this authorAlwin Rikken, Alwin Rikken Department of Human Genetics, Radboud University Nijmegen Medical Centre, The NetherlandsSearch for more papers by this authorWilly M. Nillesen, Willy M. Nillesen Department of Human Genetics, Radboud University Nijmegen Medical Centre, The NetherlandsSearch for more papers by this authorRienk Tamminga, Rienk Tamminga Department of Pediatric Oncology and Hematology, University Hospital Groningen, Beatrix Children's Hospital, The NetherlandsSearch for more papers by this authorMichael Patton, Michael Patton Department of Medical Genetics, St. George's Hospital Medical School University of London, United KingdomSearch for more papers by this authorEsther M. Maier, Esther M. Maier University of Munich, Dr. von Hauner Children's Hospital, GermanySearch for more papers by this authorMarco Tartaglia, Marco Tartaglia Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanità, Rome, Italy Department of Pediatrics, Mount Sinai School of Medicine, New YorkSearch for more papers by this authorKees Noordam, Kees Noordam University Medical Centre Nijmegen, Metabolic and Endocrine Disorders, The NetherlandsSearch for more papers by this authorIneke van der Burgt, Ineke van der Burgt Department of Human Genetics, Radboud University Nijmegen Medical Centre, The NetherlandsSearch for more papers by this author First published: 18 February 2005 https://doi.org/10.1002/ajmg.a.30598Citations: 78Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Abstract Noonan syndrome (NS) is an autosomal dominant disorder, characterized by short stature, minor facial anomalies, and congenital heart defects. In approximately 50% of cases the condition is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the protein SHP-2. In this study, PTPN11 mutation analysis was performed in 170 NS patients. In 76 (45%) of them a mutation was identified. We report on the distribution of these mutations, as well as on genotype–phenotype relationships. The benefit of the NS scoring system developed by van der Burgt et al. [(1994); Am J Med Genet 53:187–191] is shown, among physicians who consequently based their diagnosis on the NS scoring system the percentage mutation positive subjects was 54%, whereas this percentage was only 39% among physicians who made less use of the scoring system. In two patients with some uncommon manifestations mutations were found in the C-SH2 domain, a region in which defects are not often identified in NS. A trend was observed in patients carrying the 922A → G change (Asn308Asp) receiving normal education. In one patient with NS and mild juvenile myelomonocytic leukemia (JMML) the mutation 218C → T (Thr73Ile) was found. This confirms previous findings indicating that individuals with NS with specific mutations in PTPN11 are at risk of developing JMML. © 2005 Wiley-Liss, Inc. Citing Literature Volume134A, Issue215 April 2005Pages 165-170 RelatedInformation
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