Article Text

other Versions

PDF
RAS-MAPK pathway disorders: important causes of congenital heart disease, feeding difficulties, developmental delay and short stature
  1. Emma M M Burkitt Wright1,2,
  2. Bronwyn Kerr1
  1. 1Genetic Medicine, University of Manchester, Manchester Academic Health Science Centre, Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK
  2. 2Genetic and Developmental Medicine, Manchester Biomedical Research Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester Royal Infirmary, Manchester, UK
  1. Correspondence to Bronwyn Kerr, Genetic Medicine, University of Manchester, Manchester Academic Health Science Centre, Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Oxford Road, Manchester M13 9WL, UK; bronwyn.kerr{at}cmft.nhs.uk

Abstract

The disorders described as the neuro-cardio-facio-cutaneous conditions (NCFCs) may all present with symptoms that are common in paediatric practice. They result from germline mutations in genes encoding kinases and other proteins interacting in the RAS-MAPK pathway. This review summarises these disorders, discussing their presenting features and clinical course, identifying overarching similarities and, conversely, features that can help to discriminate one condition from another. The genetic basis and importance of precise clinical diagnosis and molecular diagnostic confirmation when possible is discussed, given each condition's different prognosis, and the need to remain vigilant for specific complications.

Statistics from Altmetric.com

Footnotes

  • EMMBW and BK contributed equally to this work.

  • Competing interests None.

  • Ethics approval This study was conducted with the approval of the Central Manchester Research Ethics Committee.

  • Provenance and peer review Commissioned; externally peer reviewed.

  • Detail has been removed from this case description or these case descriptions to ensure anonymity. The editors and reviewers have seen the detailed information available and are satisfied that the information backs up the case the authors are making.

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.