Literature DB >> 22855653

NRAS Mutations in Noonan Syndrome.

E Denayer1, H Peeters, L Sevenants, M Derbent, J P Fryns, E Legius.   

Abstract

Noonan syndrome is a genetically heterogeneous disorder caused by mutations in PTPN11, SOS1, RAF1 and less frequently in KRAS, NRAS or SHOC2. Here, we performed mutation analysis of NRAS and SHOC2 in 115 PTPN11, SOS1, RAF1, and KRAS mutation-negative individuals. No SHOC2 mutations were found, but we identified 3 NRAS mutations in 3 probands. One NRAS mutation was novel. The phenotype associated with germline NRAS mutations is variable. Our results confirm that a small proportion of Noonan syndrome patients carry germline NRAS mutations.

Entities:  

Year:  2012        PMID： 22855653      PMCID： PMC3398822          DOI： 10.1159/000338467

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


  17 in total

1.  Genotype-phenotype correlations in Noonan syndrome.

Authors:  Martin Zenker; Gernot Buheitel; Ralf Rauch; Rainer Koenig; Kirstin Bosse; Wolfram Kress; Hans-Ulrich Tietze; Helmuth-Guenther Doerr; Michael Hofbeck; Helmut Singer; André Reis; Anita Rauch
Journal:  J Pediatr       Date:  2004-03       Impact factor: 4.406

2.  Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

Authors:  Martin Zenker; Katarina Lehmann; Anna Leana Schulz; Helmut Barth; Dagmar Hansmann; Rainer Koenig; Rudolf Korinthenberg; Martina Kreiss-Nachtsheim; Peter Meinecke; Susanne Morlot; Stefan Mundlos; Anne S Quante; Salmo Raskin; Dirk Schnabel; Lars-Erik Wehner; Christian P Kratz; Denise Horn; Kerstin Kutsche
Journal:  J Med Genet       Date:  2006-10-20       Impact factor: 6.318

3.  Germline gain-of-function mutations in SOS1 cause Noonan syndrome.

Authors:  Amy E Roberts; Toshiyuki Araki; Kenneth D Swanson; Kate T Montgomery; Taryn A Schiripo; Victoria A Joshi; Li Li; Yosuf Yassin; Alex M Tamburino; Benjamin G Neel; Raju S Kucherlapati
Journal:  Nat Genet       Date:  2006-12-03       Impact factor: 38.330

4.  Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

Authors:  M Tartaglia; E L Mehler; R Goldberg; G Zampino; H G Brunner; H Kremer; I van der Burgt; A H Crosby; A Ion; S Jeffery; K Kalidas; M A Patton; R S Kucherlapati; B D Gelb
Journal:  Nat Genet       Date:  2001-12       Impact factor: 38.330

5.  SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.

Authors:  Martin Zenker; Denise Horn; Dagmar Wieczorek; Judith Allanson; Silke Pauli; Ineke van der Burgt; Helmuth-Guenther Doerr; Harald Gaspar; Michael Hofbeck; Gabriele Gillessen-Kaesbach; Andreas Koch; Peter Meinecke; Stefan Mundlos; Anja Nowka; Anita Rauch; Silke Reif; Christian von Schnakenburg; Heide Seidel; Lars-Erik Wehner; Christiane Zweier; Susanne Bauhuber; Verena Matejas; Christian P Kratz; Christoph Thomas; Kerstin Kutsche
Journal:  J Med Genet       Date:  2007-06-23       Impact factor: 6.318

6.  Germline KRAS mutations cause Noonan syndrome.

Authors:  Suzanne Schubbert; Martin Zenker; Sara L Rowe; Silke Böll; Cornelia Klein; Gideon Bollag; Ineke van der Burgt; Luciana Musante; Vera Kalscheuer; Lars-Erik Wehner; Hoa Nguyen; Brian West; Kam Y J Zhang; Erik Sistermans; Anita Rauch; Charlotte M Niemeyer; Kevin Shannon; Christian P Kratz
Journal:  Nat Genet       Date:  2006-02-12       Impact factor: 38.330

7.  Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.

Authors:  Claudio Carta; Francesca Pantaleoni; Gianfranco Bocchinfuso; Lorenzo Stella; Isabella Vasta; Anna Sarkozy; Cristina Digilio; Antonio Palleschi; Antonio Pizzuti; Paola Grammatico; Giuseppe Zampino; Bruno Dallapiccola; Bruce D Gelb; Marco Tartaglia
Journal:  Am J Hum Genet       Date:  2006-05-01       Impact factor: 11.025

8.  Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects.

Authors:  Vincent Runtuwene; Mark van Eekelen; John Overvoorde; Holger Rehmann; Helger G Yntema; Willy M Nillesen; Arie van Haeringen; Ineke van der Burgt; Boudewijn Burgering; Jeroen den Hertog
Journal:  Dis Model Mech       Date:  2011-01-24       Impact factor: 5.758

9.  Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

Authors:  Viviana Cordeddu; Elia Di Schiavi; Len A Pennacchio; Avi Ma'ayan; Anna Sarkozy; Valentina Fodale; Serena Cecchetti; Alessio Cardinale; Joel Martin; Wendy Schackwitz; Anna Lipzen; Giuseppe Zampino; Laura Mazzanti; Maria C Digilio; Simone Martinelli; Elisabetta Flex; Francesca Lepri; Deborah Bartholdi; Kerstin Kutsche; Giovanni B Ferrero; Cecilia Anichini; Angelo Selicorni; Cesare Rossi; Romano Tenconi; Martin Zenker; Daniela Merlo; Bruno Dallapiccola; Ravi Iyengar; Paolo Bazzicalupo; Bruce D Gelb; Marco Tartaglia
Journal:  Nat Genet       Date:  2009-08-16       Impact factor: 38.330

10.  A restricted spectrum of NRAS mutations causes Noonan syndrome.

Authors:  Ion C Cirstea; Kerstin Kutsche; Radovan Dvorsky; Lothar Gremer; Claudio Carta; Denise Horn; Amy E Roberts; Francesca Lepri; Torsten Merbitz-Zahradnik; Rainer König; Christian P Kratz; Francesca Pantaleoni; Maria L Dentici; Victoria A Joshi; Raju S Kucherlapati; Laura Mazzanti; Stefan Mundlos; Michael A Patton; Margherita Cirillo Silengo; Cesare Rossi; Giuseppe Zampino; Cristina Digilio; Liborio Stuppia; Eva Seemanova; Len A Pennacchio; Bruce D Gelb; Bruno Dallapiccola; Alfred Wittinghofer; Mohammad R Ahmadian; Marco Tartaglia; Martin Zenker
Journal:  Nat Genet       Date:  2009-12-06       Impact factor: 38.330
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  10 in total

1.  Recalculation of 23 mouse HDL QTL datasets improves accuracy and allows for better candidate gene analysis.

Authors:  Cheryl Ackert-Bicknell; Beverly Paigen; Ron Korstanje
Journal:  J Lipid Res       Date:  2013-02-07       Impact factor: 5.922

Review 2.  Mosaicism in Cutaneous Disorders.

Authors:  Young H Lim; Zoe Moscato; Keith A Choate
Journal:  Annu Rev Genet       Date:  2017-11-27       Impact factor: 16.830

3.  Genotype and phenotype spectrum of NRAS germline variants.

Authors:  Franziska Altmüller; Christina Lissewski; Debora Bertola; Elisabetta Flex; Zornitza Stark; Stephanie Spranger; Gareth Baynam; Michelle Buscarilli; Sarah Dyack; Jane Gillis; Helger G Yntema; Francesca Pantaleoni; Rosa LE van Loon; Sara MacKay; Kym Mina; Ina Schanze; Tiong Yang Tan; Maie Walsh; Susan M White; Marena R Niewisch; Sixto García-Miñaúr; Diego Plaza; Mohammad Reza Ahmadian; Hélène Cavé; Marco Tartaglia; Martin Zenker
Journal:  Eur J Hum Genet       Date:  2017-05-03       Impact factor: 4.246

Review 4.  Ras/MAPK syndromes and childhood hemato-oncological diseases.

Authors:  Yoko Aoki; Yoichi Matsubara
Journal:  Int J Hematol       Date:  2012-12-19       Impact factor: 2.490

Review 5.  Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.

Authors:  Sara Ekvall; Maria Wilbe; Jovanna Dahlgren; Eric Legius; Arie van Haeringen; Otto Westphal; Göran Annerén; Marie-Louise Bondeson
Journal:  BMC Med Genet       Date:  2015-10-14       Impact factor: 2.103

6.  Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders.

Authors:  Ileena Mitra; Alinoë Lavillaureix; Erika Yeh; Michela Traglia; Kathryn Tsang; Carrie E Bearden; Katherine A Rauen; Lauren A Weiss
Journal:  PLoS Genet       Date:  2017-01-11       Impact factor: 5.917

7.  Noonan syndrome - a new survey.

Authors:  Alireza Tafazoli; Peyman Eshraghi; Zahra Kamel Koleti; Mohammadreza Abbaszadegan
Journal:  Arch Med Sci       Date:  2016-12-19       Impact factor: 3.318

Review 8.  The RASopathies: from pathogenetics to therapeutics.

Authors:  Katie E Hebron; Edjay Ralph Hernandez; Marielle E Yohe
Journal:  Dis Model Mech       Date:  2022-02-18       Impact factor: 5.758

9.  1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.

Authors:  Natália Duarte Linhares; Maíra Cristina Menezes Freire; Raony Guimarães Corrêa do Carmo Lisboa Cardenas; Heloisa Barbosa Pena; Katherine Lachlan; Bruno Dallapiccola; Carlos Bacino; Bruno Delobel; Paul James; Ann-Charlotte Thuresson; Göran Annerén; Sérgio D J Pena
Journal:  Genet Mol Biol       Date:  2016-08-04       Impact factor: 1.771

Review 10.  Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts.

Authors:  V Dunnett-Kane; E Burkitt-Wright; F H Blackhall; A Malliri; D G Evans; C R Lindsay
Journal:  Ann Oncol       Date:  2020-03-30       Impact factor: 32.976
  10 in total

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