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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}chw.edu.au

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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 …

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