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Table 1 Clinical symptoms and results of mutation analysis of the two families

From: A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever

Family Relation Gender, age (year) Age of symptoms onset Exon 10 mutation type Common FMF symptoms
Abd. pain Fever Chest pain Arthritis Skin lesions Amyloidosis
Family A Father M, 41y No Sx* wt** - - - - - -
  Mother F, 35y 30y c.2330dupG/0 + + - - - -
  Child 11 M, 16y 15y c.2330dupG/0 + + - + - -
  Child 2 F, 10y No Sx wt** - - - - - -
Family B Father M, 35y No Sx V726A/0 - - - - - -
  Mother F, 32y 20y c.2330dupG/M694V + + + - - -
  Child 11 M, 7y 6y c.2330dupG/0 + + - - - -
  Child 2 M, 10y 3y M694V/V726A + + - - - -
  1. No Sx*: No Symptoms; wt**: Wild type; 1: Probands.
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BMC Medical Genetics

ISSN: 1471-2350

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