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Search on : noonan and syndrome [Words]
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[PMID]: 29092974
[Au] Autor:Sharaf B; Sabbagh MD; Roh SG
[Ad] Address:Plastic Surgery, Mayo Clinic, Rochester, Minnesota, USA.
[Ti] Title:Breast reconstruction in a patient with Noonan syndrome.
[So] Source:BMJ Case Rep;2017, 2017 Nov 01.
[Is] ISSN:1757-790X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Noonan syndrome (NS) is a relatively common genetic disorder with an autosomal dominant inheritance pattern affecting 1 in 1000-2500 births. Patients with this syndrome present with characteristic facial, musculoskeletal, cardiac and endocrine abnormalities. Lack of postpubertal breast development is a common manifestation of this syndrome and may result in severe hypomastia and a masculine appearance of the female chest. We report the first case of breast reconstruction in a 24-year-old woman with NS who lacked postpubertal breast development. Technical considerations for addressing the existing chest wall deformity, implant pocket selection as well as emphasis on the role of the plastic surgeon are presented.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171102
[Lr] Last revision date:171102
[St] Status:In-Process

  2 / 2189 MEDLINE  
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[PMID]: 29084544
[Au] Autor:Xu S; Fan Y; Sun Y; Wang L; Gu X; Yu Y
[Ad] Address:Department of Pediatric Endocrinology/Genetics, Xin Hua Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, 1665 Kongjiang Road, Shanghai, 200092, China.
[Ti] Title:Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.
[So] Source:BMC Med Genomics;10(1):62, 2017 Oct 30.
[Is] ISSN:1755-8794
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) are autosomal dominant developmental disorders. NS and NSML are caused by abnormalities in genes that encode proteins related to the RAS-MAPK pathway, including PTPN11, RAF1, BRAF, and MAP2K. In this study, we diagnosed ten NS or NSML patients via targeted sequencing or whole exome sequencing (TS/WES). METHODS: TS/WES was performed to identify mutations in ten Chinese patients who exhibited the following manifestations: potential facial dysmorphisms, short stature, congenital heart defects, and developmental delay. Sanger sequencing was used to confirm the suspected pathological variants in the patients and their family members. RESULTS: TS/WES revealed three mutations in the PTPN11 gene, three mutations in RAF1 gene, and four mutations in BRAF gene in the NS and NSML patients who were previously diagnosed based on the abovementioned clinical features. All the identified mutations were determined to be de novo mutations. However, two patients who carried the same mutation in the RAF1 gene presented different clinical features. One patient with multiple lentigines was diagnosed with NSML, while the other patient without lentigines was diagnosed with NS. In addition, a patient who carried a hotspot mutation in the BRAF gene was diagnosed with NS instead of cardiofaciocutaneous syndrome (CFCS). CONCLUSIONS: TS/WES has emerged as a useful tool for definitive diagnosis and accurate genetic counseling of atypical cases. In this study, we analyzed ten Chinese patients diagnosed with NS and related disorders and identified their correspondingPTPN11, RAF1, and BRAF mutations. Among the target genes, BRAF showed the same degree of correlation with NS incidence as that of PTPN11 or RAF1.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171102
[Lr] Last revision date:171102
[St] Status:In-Process
[do] DOI:10.1186/s12920-017-0298-6

  3 / 2189 MEDLINE  
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[PMID]: 28777851
[Au] Autor:Gao M; Pang H; Zhao Y; Li-Ling J
[Ad] Address:Shenyang Women and Children's Hospital, Shenyang, Liaoning 110001, China. 2316703342@qq.com.
[Ti] Title:[Analysis of genomic copy number variations in 36 fetuses with heart malformations using next-generation sequencing].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;34(4):524-527, 2017 Aug 10.
[Is] ISSN:1003-9406
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:OBJECTIVE: To explore the implications of copy number variations (CNVs) for congenital heart diseases (CHD) in fetuses. METHODS: G-banding karyotype analysis and next-generation sequencing (NGS) technology were performed on cord blood samples derived from 36 fetuses with CHD. Pathological implication of the CNVs was explored through comparison against the International Genomic Polymorphism Database (http://www.ebi.ac.uk/dgva/), Phenotype Database (http://decipher.sanger.ac.uk/), and the Human Genome Database at UCSC (http://genome.ucsc.edu/cgi-bin/hgGateway). RESULTS: G-banding karyotype analysis has identified 7 chromosomal abnormalities. For the remaining 28 cases, NGS has identified 4 microdeletions and microduplications, which involved chromosomes 2, 13, 14, 16 and 22. The largest involved a 6.8 Mb microdeletion, while the smallest involved a 280 kb microduplication. The chromosomal breakpoints in 1 case were delineated. One case of Noonan syndrome and one case of 22q11.2 deletion were diagnosed. CONCLUSION: NGS can accurately determine the origins of derivative chromosomes and facilitate identification of pathogenic CNVs/genes. It can serve as a useful complement for conventional G-banding and reduce the recurrence risk.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1708
[Cu] Class update date: 171103
[Lr] Last revision date:171103
[St] Status:In-Process
[do] DOI:10.3760/cma.j.issn.1003-9406.2017.04.012

  4 / 2189 MEDLINE  
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[PMID]: 28681392
[Au] Autor:Park SH; Lee SH
[Ad] Address:Department of Dermatology, Gangnam Severance Hospital, Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea.
[Ti] Title:Noonan syndrome with multiple lentigines with PTPN11 (T468M) gene mutation accompanied with solitary granular cell tumor.
[So] Source:J Dermatol;44(11):e280-e281, 2017 Nov.
[Is] ISSN:1346-8138
[Cp] Country of publication:England
[La] Language:eng
[Pt] Publication type:LETTER
[Em] Entry month:1707
[Cu] Class update date: 171103
[Lr] Last revision date:171103
[St] Status:In-Data-Review
[do] DOI:10.1111/1346-8138.13960

  5 / 2189 MEDLINE  
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[PMID]: 29074966
[Au] Autor:Nakamura Y; Umeki N; Abe M; Sako Y
[Ad] Address:Cellular Informatics Laboratory, RIKEN, 2-1 Hirosawa, Wako, 351-0198, Japan.
[Ti] Title:Mutation-Specific Mechanisms of Hyperactivation of Noonan Syndrome SOS Molecules Detected with Single-molecule Imaging in Living Cells.
[So] Source:Sci Rep;7(1):14153, 2017 Oct 26.
[Is] ISSN:2045-2322
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Noonan syndrome (NS) is a congenital hereditary disorder associated with developmental and cardiac defects. Some patients with NS carry mutations in SOS, a guanine nucleotide exchange factor (GEF) for the small GTPase RAS. NS mutations have been identified not only in the GEF domain, but also in various domains of SOS, suggesting that multiple mechanisms disrupt SOS function. In this study, we examined three NS mutations in different domains of SOS to clarify the abnormality in its translocation to the plasma membrane, where SOS activates RAS. The association and dissociation kinetics between SOS tagged with a fluorescent protein and the living cell surface were observed in single molecules. All three mutants showed increased affinity for the plasma membrane, inducing excessive RAS signalling. However, the mechanisms by which their affinity was increased were specific to each mutant. Conformational disorder in the resting state, increased probability of a conformational change on the plasma membrane, and an increased association rate constant with the membrane receptor are the suggested mechanisms. These different properties cause the specific phenotypes of the mutants, which should be rescuable with different therapeutic strategies. Therefore, single-molecule kinetic analyses of living cells are useful for the pathological analysis of genetic diseases.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171101
[Lr] Last revision date:171101
[St] Status:In-Data-Review
[do] DOI:10.1038/s41598-017-14190-6

  6 / 2189 MEDLINE  
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[PMID]: 29088344
[Au] Autor:Schleihauf J; Cleuziou J; Pabst von Ohain J; Meierhofer C; Stern H; Shehu N; Mkrtchyan N; Kaltenecker E; Kühn A; Nagdyman N; Hager A; Seidel H; Lange R; Ewert P; Wolf CM
[Ad] Address:Department of Pediatric Cardiology and Congenital Heart Disease, German Heart Center Munich, Technical University of Munich, Munich, Germany.
[Ti] Title:Clinical long-term outcome of septal myectomy for obstructive hypertrophic cardiomyopathy in infants.
[So] Source:Eur J Cardiothorac Surg;, 2017 Oct 27.
[Is] ISSN:1873-734X
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:OBJECTIVES: Surgical septal myectomy is performed to relieve left ventricular outflow tract narrowing in severe drug-refractory obstructive hypertrophic cardiomyopathy. The objective of this study was to assess the perioperative and long-term clinical outcome of this procedure performed during infancy. METHODS: Clinical, transthoracic echocardiographic, electrocardiographic, 24-h Holter, cardiopulmonary exercise test and genetic data were extracted by medical record review. A subset of patients underwent additional prospective detailed clinical evaluation including cardiac magnetic resonance imaging with contrast. RESULTS: Surgery was performed in 23 paediatric patients between 1978 and 2015 at the German Heart Centre Munich. Twelve patients had undergone surgery during infancy (≤ 1 year) (Group A), 11 between 1 and 18 years of age (Group B). The underlying genetic diagnosis was Noonan syndrome spectrum and non-syndromic hypertrophic cardiomyopathy. As compared to Group B, patients in Group A showed more concomitant cardiac procedures and received more homologous transfusions. One perioperative death occurred in Group A, and none in Group B. Two patients in Group A but no patient in Group B required redo septal myectomy. The long-term clinical outcome was similar between the 2 groups. One patient in Group B required cardioverter-defibrillator/pacemaker implantation for higher degree atrioventricular block and none in Group A. There was no evidence of differences in myocardial fibrosis between groups on long-term follow-up magnetic resonance imaging. CONCLUSIONS: Surgical septal myectomy can be performed safely during infancy with favourable perioperative and long-term clinical outcome but with a trend towards a higher reoperation rate later in life.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171031
[Lr] Last revision date:171031
[St] Status:Publisher
[do] DOI:10.1093/ejcts/ezx369

  7 / 2189 MEDLINE  
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[PMID]: 28328117
[Au] Autor:Siegfried A; Cances C; Denuelle M; Loukh N; Tauber M; Cavé H; Delisle MB
[Ad] Address:Department of Pathology, Institut Universitaire du Cancer, Oncopole, Toulouse, France.
[Ti] Title:Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature.
[So] Source:Am J Med Genet A;173(4):1061-1065, 2017 Apr.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Noonan syndrome (NS), an autosomal dominant disorder, is characterized by short stature, congenital heart defects, developmental delay, and facial dysmorphism. PTPN11 mutations are the most common cause of NS. PTPN11 encodes a non-receptor protein tyrosine phosphatase, SHP2. Hematopoietic malignancies and solid tumors are associated with NS. Among solid tumors, brain tumors have been described in children and young adults but remain rather rare. We report a 16-year-old boy with PTPN11-related NS who, at the age of 12, was incidentally found to have a left temporal lobe brain tumor and a cystic lesion in the right thalamus. He developed epilepsy 2 years later. The temporal tumor was surgically resected because of increasing crises and worsening radiological signs. Microscopy showed nodules with specific glioneuronal elements or glial nodules, leading to the diagnosis of dysembryoplastic neuroepithelial tumor (DNT). Immunohistochemistry revealed positive nuclear staining with Olig2 and pERK in small cells. SHP2 plays a key role in RAS/MAPK pathway signaling which controls several developmental cell processes and oncogenesis. An amino-acid substitution in the N-terminal SHP2 domain disrupts the self-locking conformation and leads to ERK activation. Glioneuronal tumors including DNTs and pilocytic astrocytomas have been described in NS. This report provides further support for the relation of DNTs with RASopathies and for the implication of RAS/MAPK pathways in sporadic low-grade glial tumors including DNTs. © 2017 Wiley Periodicals, Inc.
[Mh] MeSH terms primary: Brain Neoplasms/genetics
Epilepsy/genetics
Mutation
Neoplasms, Neuroepithelial/genetics
Noonan Syndrome/genetics
Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics
[Mh] MeSH terms secundary: Adolescent
Adult
Basic Helix-Loop-Helix Transcription Factors/genetics
Basic Helix-Loop-Helix Transcription Factors/metabolism
Brain Neoplasms/diagnosis
Brain Neoplasms/pathology
Brain Neoplasms/surgery
Child
Epilepsy/diagnosis
Epilepsy/pathology
Epilepsy/surgery
Extracellular Signal-Regulated MAP Kinases/genetics
Extracellular Signal-Regulated MAP Kinases/metabolism
Gene Expression
Genes, Dominant
Humans
Male
Neoplasms, Neuroepithelial/diagnosis
Neoplasms, Neuroepithelial/pathology
Neoplasms, Neuroepithelial/surgery
Nerve Tissue Proteins/genetics
Nerve Tissue Proteins/metabolism
Noonan Syndrome/diagnosis
Noonan Syndrome/pathology
Noonan Syndrome/surgery
Protein Tyrosine Phosphatase, Non-Receptor Type 11/metabolism
Temporal Lobe/metabolism
Temporal Lobe/pathology
Temporal Lobe/surgery
Thalamus/metabolism
Thalamus/pathology
Thalamus/surgery
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:0 (Basic Helix-Loop-Helix Transcription Factors); 0 (Nerve Tissue Proteins); 0 (OLIG2 protein, human); EC 2.7.11.24 (Extracellular Signal-Regulated MAP Kinases); EC 3.1.3.48 (PTPN11 protein, human); EC 3.1.3.48 (Protein Tyrosine Phosphatase, Non-Receptor Type 11)
[Em] Entry month:1710
[Cu] Class update date: 171030
[Lr] Last revision date:171030
[Js] Journal subset:IM
[Da] Date of entry for processing:170322
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38108

  8 / 2189 MEDLINE  
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[PMID]: 28728859
[Au] Autor:Castagna J; Clerc J; Dupond AS; Laresche C
[Ad] Address:Service de dermatologie, hôpital Nord Franche-Comté, 2, rue du Dr-Flamand, 25200 Montbeliard, France. Electronic address: julie.castagna@sfr.fr.
[Ti] Title:Tumeurs à cellules granuleuses multiples chez un enfant atteint d'un syndrome de Noonan compliqué de leucémie myélomonocytaire juvénile. [Multiple granular cell tumours in a patient with Noonan's syndrome and juvenile myelomonocytic leukaemia].
[So] Source:Ann Dermatol Venereol;144(11):705-711, 2017 Nov.
[Is] ISSN:0151-9638
[Cp] Country of publication:France
[La] Language:fre
[Ab] Abstract:BACKGROUND: Granular cell tumour (GCT) is a rare form of tumour comprising Schwann cells. Herein, we report a case of a child presenting Noonan syndrome complicated by juvenile myelomonocytic leukaemia (JMML) and who also developed a multiple form of GCT. We discussed the molecular mechanisms that might account for this association. PATIENTS AND METHODS: A six-year-old boy with Noonan syndrome complicated by JMML presented three asymptomatic subcutaneous nodules on his back, forearm and neck. Histological analysis revealed GCT. A literature review revealed seven cases of Noonan syndrome presenting GCT, none of which were associated with JMML. Mutation of gene PTPN11, via hyperactivation of intracellular Ras signalling may cause the development of GCT and JMML in children presenting Noonan syndrome. DISCUSSION: Detailed clinical examination is recommended in children presenting GCT to screen for multiple forms and for signs of malformation suggestive of a genetic syndrome. Ours is the first case to be described of Noonan syndrome complicated by JMML associated with multiple GCT. This association once again raises the important question of the role of the Ras-MAPK signalling pathway in the development of benign and malignant tumours of solid organs or blood, associated with genetic syndromes.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1707
[Cu] Class update date: 171027
[Lr] Last revision date:171027
[St] Status:In-Process

  9 / 2189 MEDLINE  
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[PMID]: 28614966
[Au] Autor:Vigneswaran TV; Homfray T; Allan LD; Simpson JM; Zidere V
[Ad] Address:a Harris Birthright Research Centre for Fetal Medicine, Fetal Medicine Research Institute, King's College Hospital , Denmark Hill, London , UK.
[Ti] Title:Persistently elevated nuchal translucency and the fetal heart.
[So] Source:J Matern Fetal Neonatal Med;:1-5, 2017 Jul 04.
[Is] ISSN:1476-4954
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:OBJECTIVE: To describe the outcome of fifteen cases with an elevated nuchal translucency (NT) which persisted into the second trimester as nuchal edema (NE) >6 mm whom underwent fetal echocardiography. MATERIALS AND METHODS: Cases were identified following retrospective review of cardiac and genetic findings in fetuses with NE. RESULTS: Minor congenital heart disease was identified in 3/15 by the second trimester. Agenesis of the ductus venosus was evident in four. Pulmonary valve stenosis was diagnosed in one fetus at the 20-week scan and hypertrophic cardiomyopathy in one. However, hypertrophic cardiomyopathy or pulmonary valve stenosis was present after birth in all surviving cases by 3 months of age. On the basis of intention to treat, 11/12 survived to delivery and 9/12 survived to 28 days. There were 6 deaths before 14 months of age as a result of severe hypertrophic cardiomyopathy. Noonan syndrome was confirmed with genetic testing in 11/15 cases. CONCLUSIONS: All fetuses with NT and NE had evidence of congenital heart disease at birth, and therefore, late gestation and postnatal review is recommended even when second trimester echocardiogram is considered normal. There is a high prevalence of Noonan syndrome and targeted genetic analysis should be considered. The outcome in these cases is poor.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1706
[Cu] Class update date: 171026
[Lr] Last revision date:171026
[St] Status:Publisher
[do] DOI:10.1080/14767058.2017.1342804

  10 / 2189 MEDLINE  
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[PMID]: 29050118
[Au] Autor:Liu XH; Ding WW; Han L; Liu XR; Xiao YY; Yang J; Mo Y
[Ad] Address:Pediatric Cardiovascular Center, Capital Medical University Affiliated Beijing Anzhen Hospital, Beijing 100029, China.
[Ti] Title:[Gene mutation and clinical phenotype analysis of patients with Noonan syndrome and hypertrophic cardiomyopathy].
[So] Source:Zhonghua Er Ke Za Zhi;55(10):780-784, 2017 Oct 02.
[Is] ISSN:0578-1310
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:To analyze the gene mutations and clinical features of patients with Noonan syndrome and hypertrophic cardiomyopathy. Determined the mutation domain in five cases diagnosed with Noonan syndrome and hypertrophic cardiomyopathy and identified the relationship between the mutant domain and hypertrophic cardiomyopathy by searching relevant articles in pubmed database. Three mutant genes (PTPN11 gene in chromosome 12, RIT1 gene in chromosome 1 and RAF1 gene in chromosome 3) in five cases all had been reported to be related to hypertrophic cardiomyopathy. The reported hypertrophic cardiomyopathy relevant genes MYPN, MYH6 and MYBP3 had also been found in case 1 and 2. Patients with same gene mutation had different clinical manifestations. Both case 4 and 5 had RAF1 mutation (c.770C>T). However, case 4 had special face, low IQ, mild pulmonary artery stenosis, and only mild ventricular hypertrophy. Noonan syndrome is a genetic heterogeneity disease. Our study identified specific gene mutations that could result in Noonan syndrome with hypertrophic cardiomyopathy through molecular biology methods. The results emphasize the importance of gene detection in the management of Noonan syndrome.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171019
[Lr] Last revision date:171019
[St] Status:In-Process
[do] DOI:10.3760/cma.j.issn.0578-1310.2017.10.014


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