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  1. Article: Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.

    Carcavilla, Atilano / Cambra, Ana / Santomé, José L / Seidel, Verónica / Cruz, Jaime / Alonso, Milagros / Pozo, Jesús / Valenzuela, Irene / Guillén-Navarro, Encarna / Santos-Simarro, Fernando / González-Casado, Isabel / Rodríguez, Amparo / Medrano, Constancio / López-Siguero, Juan Pedro / Ezquieta, Begoña

    Journal of clinical medicine

    2023  Volume 12, Issue 15

    Abstract: Molecular study has become an invaluable tool in the field of RASopathies. Treatment with recombinant human growth hormone is approved in Noonan syndrome but not in the other RASopathies. The aim of this study was to learn about the molecular base of a ... ...

    Abstract Molecular study has become an invaluable tool in the field of RASopathies. Treatment with recombinant human growth hormone is approved in Noonan syndrome but not in the other RASopathies. The aim of this study was to learn about the molecular base of a large cohort of patients with RASopathies, with particular emphasis on patients with pathogenic variants in genes other than
    Language English
    Publishing date 2023-07-29
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm12155003
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.

    Carcavilla, Atilano / Santomé, José L / Pinto, Isabel / Sánchez-Pozo, Jaime / Guillén-Navarro, Encarna / Martín-Frías, María / Lapunzina, Pablo / Ezquieta, Begoña

    Revista espanola de cardiologia (English ed.)

    2013  Volume 66, Issue 5, Page(s) 350–356

    Abstract: Introduction and objectives: LEOPARD syndrome is an autosomal dominant condition related to Noonan syndrome, although it occurs less frequently. The aim of this study was to characterize the clinical and molecular features of a large series of LEOPARD ... ...

    Abstract Introduction and objectives: LEOPARD syndrome is an autosomal dominant condition related to Noonan syndrome, although it occurs less frequently. The aim of this study was to characterize the clinical and molecular features of a large series of LEOPARD syndrome patients.
    Methods: We collected clinical data from 19 patients in 10 hospitals. Bidirectional sequencing analysis of PTPN11, RAF1, and BRAF focused on exons carrying recurrent mutations.
    Results: After facial dysmorphism, structural heart defects (88%) were the most common feature described. Hypertrophic cardiomyopathy (71%) was diagnosed more often than pulmonary valve stenosis (35%). Multiple lentigines or café au lait spots were found in 84% of the series, and deafness was diagnosed in 3 patients. Mutations in PTPN11 were identified in 16 (84%) patients (10 patients had the recurrent LEOPARD syndrome mutation, p.Thr468Met) (NP_002825.3T468M). Two other patients had a mutation in RAF, and 1 patient had a mutation in BRAF. When compared with other neurocardiofaciocutaneous syndromes, LEOPARD syndrome patients showed a higher prevalence of hypertrophic cardiomyopathy and cutaneous abnormalities, and a lower prevalence of pulmonary valve stenosis and short stature.
    Conclusions: LEOPARD syndrome patients display distinctive features apart from multiple lentigines, such as a higher prevalence of hypertrophic cardiomyopathy and lower prevalence of short stature. Given its clinical implications, active search for hypertrophic cardiomyopathy is warranted in Noonan syndrome spectrum patients, especially in LEOPARD syndrome patients.
    MeSH term(s) Adolescent ; Adult ; Cardiomyopathy, Hypertrophic/complications ; Child ; Child, Preschool ; Female ; Humans ; Infant ; LEOPARD Syndrome/classification ; LEOPARD Syndrome/complications ; LEOPARD Syndrome/diagnosis ; LEOPARD Syndrome/genetics ; Male ; Middle Aged ; Mutation ; Noonan Syndrome/complications ; Noonan Syndrome/diagnosis ; Noonan Syndrome/genetics ; Young Adult
    Language English
    Publishing date 2013-05
    Publishing country Spain
    Document type Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1885-5857
    ISSN (online) 1885-5857
    DOI 10.1016/j.rec.2012.09.015
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.

    Ezquieta, Begoña / Santomé, José L / Carcavilla, Atilano / Guillén-Navarro, Encarna / Pérez-Aytés, Antonio / Sánchez del Pozo, Jaime / García-Miñaur, Sixto / Castillo, Emilia / Alonso, Milagros / Vendrell, Teresa / Santana, Alfredo / Maroto, Enrique / Galbis, Liliana

    Revista espanola de cardiologia (English ed.)

    2012  Volume 65, Issue 5, Page(s) 447–455

    Abstract: Introduction and objectives: Molecular characterization of congenital heart diseases now includes the not infrequent dysmorphic Noonan syndrome. A study of 6 genes of the RAS-MAPK pathway in Spanish patients is presented: the impact of heart disease, ... ...

    Abstract Introduction and objectives: Molecular characterization of congenital heart diseases now includes the not infrequent dysmorphic Noonan syndrome. A study of 6 genes of the RAS-MAPK pathway in Spanish patients is presented: the impact of heart disease, clinical expressivity, and diagnostic yield are investigated.
    Methods: The study included 643 patients (and 182 family members) diagnosed by dysmorphologists, cardiologists, and pediatric endocrinologists from 74 tertiary hospitals. Bidirectional sequencing analysis of PTPN11, SOS1, RAF1, BRAF, KRAS and HRAS focused on exons carrying recurrent mutations accounting for 80% to 95% of previously described mutations.
    Results: Mutations were detected in 230 patients (91 women and 139 men) in 200 (31%) families (172 PTPN11+, 14 SOS1+, 9 RAF1+, 5 BRAF+). There was specific reference to the heart defect suffered in 156 index cases: 103 patients had shown pulmonary stenosis, 12 pulmonary stenosis with hyperthrophic cardiomyopathy, 18 hypertrophic cardiomiopathy, and 14 other cardiopathies; heart disease was absent in 9 index cases. Heart disease had not been documented in 23 of 30 family members with positive genotype and compatible clinical signs. Diagnostic yield was higher (P=.016) for samples from some centers (53%; 14/32) and even from certain professionals (64%; 9/14; P=.019). Characterization rate was 18% in patients for whom clinical data were not available. Genotyping led to a more precise diagnosis in 26 patients.
    Conclusions: Most patients (94%) with a positive genotype had known congenital heart disease, 79% pulmonary stenosis and 12% hyperthrophic cardiomyopathy. Cardiopathy had not been documented in 76% of family members carrying the mutation. Molecular study is a useful tool in these syndromes but a more rigorous clinical diagnosis should be intended as well.
    MeSH term(s) Adolescent ; Cardiomyopathy, Hypertrophic/genetics ; Child ; Ectodermal Dysplasia/genetics ; Facies ; Failure to Thrive/genetics ; Female ; Genes, ras/genetics ; Genotype ; Heart Defects, Congenital/genetics ; Heart Diseases/genetics ; Humans ; Male ; Mitogen-Activated Protein Kinases/genetics ; Noonan Syndrome/genetics ; Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics ; Proto-Oncogene Proteins B-raf/genetics ; Proto-Oncogene Proteins c-raf/genetics ; Pulmonary Valve Stenosis/genetics ; SOS1 Protein/genetics
    Chemical Substances SOS1 Protein ; BRAF protein, human (EC 2.7.11.1) ; Proto-Oncogene Proteins B-raf (EC 2.7.11.1) ; Proto-Oncogene Proteins c-raf (EC 2.7.11.1) ; Mitogen-Activated Protein Kinases (EC 2.7.11.24) ; PTPN11 protein, human (EC 3.1.3.48) ; Protein Tyrosine Phosphatase, Non-Receptor Type 11 (EC 3.1.3.48)
    Language Spanish
    Publishing date 2012-05
    Publishing country Spain
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1885-5857
    ISSN (online) 1885-5857
    DOI 10.1016/j.recesp.2011.12.016
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.

    Ortiz-Genga, Martín F / Cuenca, Sofía / Dal Ferro, Matteo / Zorio, Esther / Salgado-Aranda, Ricardo / Climent, Vicente / Padrón-Barthe, Laura / Duro-Aguado, Iria / Jiménez-Jáimez, Juan / Hidalgo-Olivares, Víctor M / García-Campo, Enrique / Lanzillo, Chiara / Suárez-Mier, M Paz / Yonath, Hagith / Marcos-Alonso, Sonia / Ochoa, Juan P / Santomé, José L / García-Giustiniani, Diego / Rodríguez-Garrido, Jorge L /
    Domínguez, Fernando / Merlo, Marco / Palomino, Julián / Peña, María L / Trujillo, Juan P / Martín-Vila, Alicia / Stolfo, Davide / Molina, Pilar / Lara-Pezzi, Enrique / Calvo-Iglesias, Francisco E / Nof, Eyal / Calò, Leonardo / Barriales-Villa, Roberto / Gimeno-Blanes, Juan R / Arad, Michael / García-Pavía, Pablo / Monserrat, Lorenzo

    Journal of the American College of Cardiology

    2016  Volume 68, Issue 22, Page(s) 2440–2451

    Abstract: Background: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment to the plasmatic membrane. FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers. Accordingly, ... ...

    Abstract Background: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment to the plasmatic membrane. FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers. Accordingly, since 2012, the authors have included FLNC in the genetic screening of patients with inherited cardiomyopathies and sudden death.
    Objectives: The aim of this study was to demonstrate the association between truncating mutations in FLNC and the development of high-risk dilated and arrhythmogenic cardiomyopathies.
    Methods: FLNC was studied using next-generation sequencing in 2,877 patients with inherited cardiovascular diseases. A characteristic phenotype was identified in probands with truncating mutations in FLNC. Clinical and genetic evaluation of 28 affected families was performed. Localization of filamin C in cardiac tissue was analyzed in patients with truncating FLNC mutations using immunohistochemistry.
    Results: Twenty-three truncating mutations were identified in 28 probands previously diagnosed with dilated, arrhythmogenic, or restrictive cardiomyopathies. Truncating FLNC mutations were absent in patients with other phenotypes, including 1,078 patients with hypertrophic cardiomyopathy. Fifty-four mutation carriers were identified among 121 screened relatives. The phenotype consisted of left ventricular dilation (68%), systolic dysfunction (46%), and myocardial fibrosis (67%); inferolateral negative T waves and low QRS voltages on electrocardiography (33%); ventricular arrhythmias (82%); and frequent sudden cardiac death (40 cases in 21 of 28 families). Clinical skeletal myopathy was not observed. Penetrance was >97% in carriers older than 40 years. Truncating mutations in FLNC cosegregated with this phenotype with a dominant inheritance pattern (combined logarithm of the odds score: 9.5). Immunohistochemical staining of myocardial tissue showed no abnormal filamin C aggregates in patients with truncating FLNC mutations.
    Conclusions: Truncating mutations in FLNC caused an overlapping phenotype of dilated and left-dominant arrhythmogenic cardiomyopathies complicated by frequent premature sudden death. Prompt implantation of a cardiac defibrillator should be considered in affected patients harboring truncating mutations in FLNC.
    MeSH term(s) Adolescent ; Adult ; Aged ; Cardiomyopathies/etiology ; Cardiomyopathies/genetics ; Cardiomyopathies/metabolism ; Child ; Child, Preschool ; DNA/genetics ; DNA Mutational Analysis ; Female ; Filamins/genetics ; Filamins/metabolism ; Genotype ; Humans ; Immunohistochemistry ; Infant ; Male ; Middle Aged ; Mutation ; Prognosis ; Retrospective Studies ; Risk Factors ; Tachycardia, Ventricular/complications ; Tachycardia, Ventricular/genetics ; Tachycardia, Ventricular/metabolism ; Young Adult
    Chemical Substances FLNC protein, human ; Filamins ; DNA (9007-49-2)
    Language English
    Publishing date 2016-12-06
    Publishing country United States
    Document type Journal Article ; Multicenter Study
    ZDB-ID 605507-2
    ISSN 1558-3597 ; 0735-1097
    ISSN (online) 1558-3597
    ISSN 0735-1097
    DOI 10.1016/j.jacc.2016.09.927
    Database MEDical Literature Analysis and Retrieval System OnLINE

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