High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation-Reference-Cited by-同舟云学术

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Published:2015-08-21 Issue:11 Volume:36 Page:1052-1063
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Rojnueangnit Kitiwan¹²,Xie Jing¹,Gomes Alicia¹,Sharp Angela¹,Callens Tom¹,Chen Yunjia¹,Liu Ying¹,Cochran Meagan¹,Abbott Mary‐Alice³,Atkin Joan⁴,Babovic‐Vuksanovic Dusica⁵,Barnett Christopher P.⁶,Crenshaw Melissa⁷,Bartholomew Dennis W.⁴,Basel Lina⁸,Bellus Gary⁹,Ben‐Shachar Shay¹⁰,Bialer Martin G.¹¹,Bick David¹²,Blumberg Bruce¹³,Cortes Fanny¹⁴,David Karen L.¹⁵,Destree Anne¹⁶,Duat‐Rodriguez Anna¹⁷,Earl Dawn¹⁸,Escobar Luis¹⁹,Eswara Marthanda²⁰,Ezquieta Begona²¹,Frayling Ian M.²²,Frydman Moshe²³,Gardner Kathy²⁴,Gripp Karen W.²⁵,Hernández‐Chico Concepcion²⁶,Heyrman Kurt²⁷,Ibrahim Jennifer²⁸,Janssens Sandra²⁹,Keena Beth A³⁰,Llano‐Rivas Isabel³¹,Leppig Kathy³²,McDonald Marie³³,Misra Vinod K.³⁴,Mulbury Jennifer³⁵,Narayanan Vinodh³⁶,Orenstein Naama³⁷,Galvin‐Parton Patricia³⁸,Pedro Helio³⁹,Pivnick Eniko K.⁴⁰,Powell Cynthia M.⁴¹,Randolph Linda⁴²,Raskin Salmo⁴³,Rosell Jordi⁴⁴,Rubin Karol⁴⁵,Seashore Margretta⁴⁶,Schaaf Christian P.⁴⁷,Scheuerle Angela⁴⁸,Schultz Meredith⁴⁹,Schorry Elizabeth⁵⁰,Schnur Rhonda⁵¹,Siqveland Elizabeth⁵²,Tkachuk Amanda⁹,Tonsgard James⁵³,Upadhyaya Meena²²,Verma Ishwar C.⁵⁴,Wallace Stephanie¹⁸,Williams Charles⁵⁵,Zackai Elaine³⁰,Zonana Jonathan⁵⁶,Lazaro Conxi⁵⁷,Claes Kathleen²⁹,Korf Bruce¹,Martin Yolanda²⁶,Legius Eric⁵⁸,Messiaen Ludwine¹

Affiliation:

1. Department of Genetics Medical Genomics Laboratory University of Alabama at Birmingham Birmingham Alabama

2. Department of Pediatrics Faculty of Medicine Thammasat University Bangkok Thailand

3. Department of Pediatrics Tufts University School of Medicine Springfield Massachusetts

4. Section of Molecular and Human Genetics Nationwide Children's Hospital Columbus Ohio

5. Medical Genetics Mayo Clinic College of Medicine Rochester Minnesota

6. Pediatric and Reproductive Genetics SA Clinical Genetics Service Women's and Children's Hospital/SA Pathology North Adelaide South Australia and Discipline of Pediatrics University of Adelaide Adelaide Australia

7. Department of Clinical Genetics All Children's Hospital John Hopkins Medicine and Department of Pediatrics John Hopkins University School of Medicine Baltimore Maryland

8. Raphael Recanati Genetics Institute Beilinson Campus and Schneider Children's Medical Center of Israel/Felsenstein Medical Research Center Rabin Medical Center Petach Tikva Israel and Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel

9. Department of Clinical Genetics and Metabolism Children's Hospital University of Colorado Denver‐Aurora Colorado

10. The Genetic Institute Tel‐Aviv Sourasky Medical Center and Sackler Faculty of Medicine Tel‐Aviv Israel

11. Department of Pediatrics North Shore LIJ Health System Manhasset New York

12. Section of Genetics Department of Pediatrics Medical College of Wisconsin Milwaukee Wisconsin

13. Kaiser Permanente Oakland Oakland California

14. Center for Rare Diseases Clinica Las Condes Santiago Chile

15. Department of Medicine Division of Genetics New York Methodist Hospital Brooklyn New York

16. Institute of Pathology and Genetics (IPG) Gosselies Belgium

17. Department of Neuropediatrics Hospital Infantil Universitario Niño Jesús Madrid Spain

18. Department of Pediatrics Division of Genetic Medicine University of Washington and Seattle Children's Hospital Seattle Washington

19. Medical Genetics and Neurodevelopment Center St Vincent Children's Hospital Indianapolis Indiana

20. Sutter Memorial Hospital Sacramento California

21. Department of Biochemistry Hospital Universitario Gregorio Marañón, Institute of Health Research (IiSGM), Madrid Spain

22. Institute of Medical Genetics University Hospital of Wales Cardiff UK

23. Chaim Sheba Medical Center Tel Hashomer Israel

24. Department of Neurology Veterans Administration Hospital of Pittsburgh and University of Pittsburgh Pittsburgh Pennsylvania

25. Division of Medical Genetics AI duPont Hospital for Children Wilmington Delaware

26. Department of Genetics Hospital Universitario Ramón y Cajal Institute of Health Research (IRYCIS). Center for Biomedical Research–Network of Rare Diseases (CIBERER) Madrid Spain

27. Children's Health Center‐Pediatrics Appleton Wisconsin

28. St. Joseph's Children's Hospital Paterson New Jersey

29. Center for Medical Genetics Ghent University Hospital Gent Belgium

30. Division of Human Genetics Children's Hospital of Philadelphia University of Pennsylvania School of Medicine Philadelphia Pennsylvania

31. Department of Genetics Hospital Universitario Cruces BioCruces Health Research Institute Biscay Spain

32. Genetic Services Group Health Cooperative and Department of Pathology University of Washington Seattle Washington

33. Department of Pediatrics Division of Medical Genetics Duke University Medical Center Durham North Carolina

34. Department of Pediatrics Division of Genetics and Metabolic Disorders The Wayne State University School of Medicine Detroit Michigan

35. Department of Pediatrics and Neurology University of Rochester Medical center Rochester New York

36. Dorrance Center for Rare Childhood Disorders Translational Genomics Research Institute (TGen) Phoenix Arizona

37. Genetics Unit Schneider Children's Medical Center of Israel Petach Tikva Israel

38. Stony Brook Children's Stony Brook Medicine Stony Brook New York

39. Medical Genetics Hackensack University Medical Center Hackensack New Jersey

40. Department of Pediatrics Division of Medical Genetics and Department of Ophthalmology University of Tennessee Health Science Center and Le Bonheur Children's Hospita l Memphis Tennessee

41. Department of Pediatrics University of North Carolina Chapel Hill North Carolina

42. Division of Medical Genetics Children's Hospital Los Angeles Los Angeles California

43. Group for Advanced Molecular Investigation (NIMA) School of Health and Biosciences Pontificia Universidade Catolica do Parana (PUCPR) Curibita Brasil

44. Genetics Service Hospital Son Espases Palma de Mallorca Spain

45. University of Minnesota Children's Hospital Minneapolis Minnesota

46. Department of Pediatrics and Genetics Yale School of Medicine New Haven Connecticut

47. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas

48. Department of Pediatrics University of Texas Southwestern Medical Center Dallas Texas

49. Nationwide Children's Hospital Columbus Ohio

50. Department of Pediatrics University of Cincinnati Cincinnati Ohio

51. Division of Genetics Cooper Medical School of Rowan University Camden New Jersey

52. Children's Hospitals and Clinics of Minnesota Minneapolis Minnesota

53. Departments of Pediatrics and Neurology University of Chicago/Pritzker School of Medicine Chicago Illinois

54. Department of Genetic Medicine Sri Ganga Ram Hospital New Delhi India

55. Department of Pediatrics Division of Genetics and Metabolism University of Florida Gainesville Florida

56. Departments of Pediatrics and Molecular and Medical Genetics Oregon Health and Science University Portland Oregon

57. Molecular Diagnostics Unit Hereditary Cancer Program Catalan Institute of Oncology (ICO‐IDIBELL) L'Hospitalet de Llobregat Barcelona Spain

58. Department of Human Genetics KU Leuven Leuven Belgium

Funder

Childrens tumour foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.22832

Reference63 articles.

1. Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

2. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1

3. Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype–phenotype correlation

4. Neurofibromatosis-Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient

5. Outcomes of systematic screening for optic pathway tumors in children with Neurofibromatosis Type 1

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