Article Text

Download PDFPDF
Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness
  1. Davinder Singh-Grewal1,
  2. Jeffrey Chaitow1,
  3. Ivona Aksentijevich3,
  4. John Christodoulou4
  1. 1
    Department of Rheumatology, The Children’s Hospital at Westmead, Sydney and Discipline of Paediatrics and Child Health, University of Sydney, Australia
  2. 3
    Genetics and Genomics Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA
  3. 4
    Western Sydney Genetics Program, The Children’s Hospital at Westmead, Sydney, Australia
  1. Dr Davinder Singh-Grewal, Department of Paediatrics, The Children’s Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia; davindes{at}

Statistics from

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.

We report two individuals with familial Mediterranean fever (FMF) confirmed on genetic testing who also had progressive deafness and mutations in the CIAS1 gene. This is the first report of co-existent mutations in the CIAS1 and MEFV genes in the literature.

Patient 1, a boy, was investigated for splenomegaly in infancy without an identified cause. He had speech delay at the age of 3 years with mild conductive hearing deficit and at 5 years sensorineural deafness of 60 dB bilaterally in the 2000–3000 Hz range. At 6 years of age he developed recurrent fever, abdominal pain, arthritis and raised inflammatory markers. FMF …

View Full Text


  • Competing interests: None.