Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?

A. S. van der Werf - ’t Lam, A. van Haeringen, T. Rinnen, R. M. Robles de Medina, A. A. M. Wilde, R. C. Hennekam, D. Q. C. M. Barge - Schaapveld

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Abstract

Andersen-Tawil syndrome (ATS) and Noonan syndrome (NS) are both autosomal dominantly inherited disorders that share anomalies in the same body systems, i.e. cardiovascular system, skeleton, growth, and face morphology. Here we report a patient meeting clinical diagnostic criteria for NS in whom no variant in one of the genes known to cause NS was found and a pathogenic variant in KCNJ2 (c.653G > C, p.(Arg218Pro)) was demonstrated. Because of manifestations typical for NS and previously not described in ATS (broad neck, low hairline and pectus excavatum), this may indicate there is a phenotypical overlap between ATS and NS, although we cannot exclude that the patient has an additional, hitherto undetected variant in another gene that explains the NS features. Further studies into a functional relation between KCNJ2 and the RAS/MAPK pathway are needed to determine this further.
Original languageEnglish
Article number104382
JournalEuropean Journal of Medical Genetics
Volume65
Issue number1
DOIs
Publication statusPublished - 1 Jan 2022

Keywords

  • - Andersen Tawil syndrome
  • KCNJ2
  • Noonan syndrome
  • RAS/MAPK pathway

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