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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 …
Competing interests: None.
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