Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1-Reference-Cited by-同舟云学术

Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Published:2019-10-26 Issue:1 Volume:41 Page:299-315
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Koczkowska Magdalena¹,Callens Tom¹,Chen Yunjia¹,Gomes Alicia¹,Hicks Alesha D.¹,Sharp Angela¹,Johns Eric¹,Uhas Kim Armfield²,Armstrong Linlea³,Bosanko Katherine Armstrong⁴,Babovic‐Vuksanovic Dusica⁵,Baker Laura⁶,Basel Donald G.⁷,Bengala Mario⁸,Bennett James T.⁹,Chambers Chelsea¹⁰,Clarkson Lola K.¹¹,Clementi Maurizio¹²,Cortés Fanny M.¹³,Cunningham Mitch¹⁴,D'Agostino M. Daniela¹⁵,Delatycki Martin B.¹⁶,Digilio Maria C.¹⁷,Dosa Laura¹⁸,Esposito Silvia¹⁹,Fox Stephanie¹⁵,Freckmann Mary‐Louise²⁰,Fauth Christine²¹,Giugliano Teresa²²,Giustini Sandra²³,Goetsch Allison²⁴,Goldberg Yael²⁵,Greenwood Robert S.²⁶,Griffis Cristin⁷,Gripp Karen W.⁶,Gupta Punita²⁷,Haan Eric²⁸,Hachen Rachel K.²⁹,Haygarth Tamara L.³⁰,Hernández‐Chico Concepción³¹,Hodge Katelyn³²,Hopkin Robert J.³³,Hudgins Louanne³⁴,Janssens Sandra³⁵,Keller Kory³⁶,Kelly‐Mancuso Geraldine³³,Kochhar Aaina³⁷,Korf Bruce R.¹,Lewis Andrea M.³⁸,Liebelt Jan³⁹,Lichty Angie¹¹,Listernick Robert H.²⁴,Lyons Michael J.¹¹,Maystadt Isabelle⁴⁰,Martinez Ojeda Mayra⁴¹,McDougall Carey⁴²,McGregor Lesley K.³⁹,Melis Daniela⁴³,Mendelsohn Nancy⁴⁴,Nowaczyk Malgorzata J.M.⁴⁵,Ortenberg June¹⁵,Panzer Karin⁴⁶,Pappas John G.⁴⁷,Pierpont Mary Ella⁴⁸,Piluso Giulio²²,Pinna Valentina⁴⁹,Pivnick Eniko K.⁵⁰,Pond Dinel A.⁴⁴,Powell Cynthia M.⁵¹,Rogers Caleb³⁶,Ruhrman Shahar Noa²⁵,Rutledge S. Lane¹,Saletti Veronica¹⁹,Sandaradura Sarah A.⁵²,Santoro Claudia⁵³,Schatz Ulrich A.²¹,Schreiber Allison⁵⁴,Scott Daryl A.³⁸,Sellars Elizabeth A.⁴,Sheffer Ruth⁵⁵,Siqveland Elizabeth⁴⁴,Slopis John M.⁵⁶,Smith Rosemarie⁵⁷,Spalice Alberto⁵⁸,Stockton David W.¹⁴,Streff Haley³⁸,Theos Amy⁵⁹,Tomlinson Gail E.⁶⁰,Tran Grace⁶¹,Trapane Pamela L.⁶²,Trevisson Eva¹²^ORCID,Ullrich Nicole J.⁶³,Van den Ende Jenneke⁶⁴,Schrier Vergano Samantha A.⁶⁵,Wallace Stephanie E.⁹,Wangler Michael F.³⁸^ORCID,Weaver David D.³²,Yohay Kaleb H.⁶⁶,Zackai Elaine⁴²,Zonana Jonathan³⁶,Zurcher Vickie⁵⁴,Claes Kathleen B. M.³⁵^ORCID,Eoli Marica⁶⁷,Martin Yolanda³¹,Wimmer Katharina²¹^ORCID,De Luca Alessandro⁴⁹^ORCID,Legius Eric⁶⁸,Messiaen Ludwine M.¹^ORCID

Affiliation:

1. Department of GeneticsUniversity of Alabama at Birmingham Birmingham Albama

2. Children's Healthcare of Atlanta at Scottish Rite Atlanta Georgia

3. Department of Medical Genetics, BC Women's HospitalUniversity of British Columbia Vancouver British Columbia Canada

4. Division of Clinical Genetics and Metabolism, Arkansas Children's HospitalUniversity of Arkansas for Medical Sciences Little Rock Arkansas

5. Department of Clinical GenomicsMayo Clinic Rochester Minnesota

6. Division of Medical GeneticsAl DuPont Hospital for Children Wilmington Delaware

7. Children's Hospital of Wisconsin Milwaukee Wisconsin

8. U.O.C Laboratorio di Genetica Medica, Dipartimento di OncoematologiaFondazione Policlinico di Tor Vergata Rome Italy

9. Division of Genetic Medicine, Department of PediatricsUniversity of Washington Seattle Washington

10. Department of NeurologyUniversity of Virginia Medical Center Charlottesville Virginia

11. Greenwood Genetic Center Greenwood South Carolina

12. Clinical Genetics Unit, Department of Women's and Children's HealthUniversity of Padova Padova Italy

13. Center for Rare DiseasesClinica Las Condes Santiago Chile

14. Division of Genetic, Genomic, and Metabolic Disorders, Detroit Medical CenterChildren's Hospital of Michigan Detroit Michigan

15. Division of Medical GeneticsMcGill University Health Centre Montréal Quebec Canada

16. Bruce Lefroy Centre for Genetic Health ResearchMurdoch Childrens Research Institute Parkville Victoria Australia

17. Medical Genetics Unit, Bambino Gesù Children's HospitalIRCCS Rome Italy

18. SOC Genetica MedicaAOU Meyer Florence Italy

19. Developmental Neurology UnitFondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

20. Department of Clinical GeneticsRoyal North Shore Hospital St Leonards New South Wales Australia

21. Division of Human GeneticsMedical University of Innsbruck Innsbruck Austria

22. Department of Precision MedicineUniversità degli Studi della Campania “Luigi Vanvitelli” Naples Italy

23. Department of Dermatology and Venereology, Policlinico Umberto ISapienza University of Rome Rome Italy

24. Department of PediatricsNorthwestern University Feinberg School of Medicine Chicago Illinois

25. The Raphael Recanati Genetics InstituteRabin Medical Center Petah Tikva Israel

26. Division of Child NeurologyUniversity of North Carolina School of Medicine Chapel Hill North Carolina

27. Neurofibromatosis Diagnostic and Treatment ProgramSt. Joseph's Children's Hospital Paterson New Jersey

28. Adult Genetics UnitRoyal Adelaide Hospital Adelaide South Australia Australia

29. Neurofibromatosis ProgramChildren's Hospital of Philadelphia Philadelphia Pennsylvania

30. Carolinas HealthCare SystemLevine Children's Specialty Center Charlotte North Carolina

31. Department of Genetics, Hospital Universitario Ramón y CajalInstitute of Health Research (IRYCIS) and Center for Biomedical Research‐Network of Rare Diseases (CIBERER) Madrid Spain

32. Department of Medical and Molecular GeneticsIndiana University School of Medicine Indianapolis Indiana

33. Division of Human GeneticsCincinnati Children's Hospital Medical Center Cincinnati Ohio

34. Division of Medical GeneticsStanford University School of Medicine Stanford California

35. Center for Medical GeneticsGhent University Hospital Ghent Belgium

36. Department of Molecular and Medical GeneticsOregon Health and Science University Portland Oregon

37. Department of Medical Genetics and MetabolismValley Children's Healthcare Madera California

38. Department of Molecular and Human GeneticsBaylor College of Medicine Houston Texas

39. The South Australian Clinical Genetics Service at the Women's and Children's Hospital North Adelaide South Australia Australia

40. Center for Human GeneticsInstitute of Pathology and Genetics (IPG) Gosselies Belgium

41. Division of Genetics and GenomicsBoston Children's Hospital Boston Massachusetts

42. Division of Human Genetics, Children's Hospital of PhiladelphiaUniversity of Pennsylvania School of Medicine Philadelphia Pennsylvania

43. Section of Pediatrics, Department of Translational Medical SciencesFederico II University Naples Italy

44. Genomics Medicine ProgramChildren's Hospital Minnesota Minneapolis Minnesota

45. Department of Pathology and Molecular MedicineMcMaster University Hamilton Ontario Canada

46. University of Iowa Stead Family Children's Hospital Iowa City Iowa

47. Division of Clinical Genetic Services, Department of PediatricsNYU School of Medicine New York New York

48. Department of Pediatrics and OpthalmologyUniversity of Minnesota Minneapolis Minnesota

49. Molecular Genetics UnitIRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Foggia Italy

50. Department of Pediatrics and Department of OphthalmologyUniversity of Tennessee Health Science Center Memphis Tennessee

51. Department of Genetics and Department of PediatricsUniversity of North Carolina School of Medicine Chapel Hill North Carolina

52. Division of Clinical Genetics, Department of Paediatrics and Child Health, Children's Hospital at WestmeadUniversity of Sydney Sydney New South Wales Australia

53. Specialistic and General Surgery Unit, Department of Woman and Child, Referral Centre of NeurofibromatosisUniversità degli Studi della Campania “Luigi Vanvitelli” Naples Italy

54. Cleveland ClinicGenomic Medicine Institute Cleveland Ohio

55. Department of Genetics and Metabolic DiseasesHadassah‐Hebrew University Medical Center Jerusalem Israel

56. Department of Neuro‐OncologyThe University of Texas MD Anderson Cancer Center Houston Texas

57. Division of Genetics, Department of PediatricsMaine Medical Center Portland Maine

58. Child Neurology Division, Department of PediatricsSapienza University of Rome Rome Italy

59. Department of DermatologyUniversity of Alabama at Birmingham Birmingham Alabama

60. Division of Pediatric Hematology–Oncology, Greehey Children's Cancer Research InstituteThe University of Texas Health Science Center San Antonio Texas

61. Department of Clinical Cancer GeneticsThe University of Texas MD Anderson Cancer Center Houston Texas

62. Division of Pediatric Genetics, Department of PediatricsUniversity of Florida College of Medicine Jacksonville Florida

63. Department of NeurologyBoston Children's Hospital Boston Massachusetts

64. Center for Medical GeneticsUniversity of Antwerp and Antwerp University Hospital Antwerp Belgium

65. Division of Medical Genetics and MetabolismChildren's Hospital of the King's Daughters Norfolk Virginia

66. Department of Neurology, New York University School of MedicineLangone Medical Center New York New York

67. Division of Molecular Neuro‐OncologyFondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

68. Department of Human GeneticsKU Leuven Leuven Belgium

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23929

Reference51 articles.

1. Structural Fingerprints of the Ras-GTPase Activating Proteins Neurofibromin and p120GAP

2. Noonan syndrome: The changing phenotype

3. Noonan phenotype associated with neurofibromatosis

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

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

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