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The former group were less likely to have abdominal pain and exertional leg pain (p 0.004 and p 0.001 respectively) and more likely to have chest pain (P 0.01). Both sub-groups showed milder clinical phenotype compared to patients with M694V homozygosity. Our findings demonstrate that a single heterozygous E148Q variant is unlikely to cause FMF in children and that E148Q/M694V is clinically indistinguishable from a single M694V variant. Thus, E148Q heterozygosity does not result in clinically meaningful phenotype in childre