Phenotype-genotype comperative charactristics of FMF heterozygous patients with the homozygous patients for the same mutations
Abstract
Familial Mediterranean fever (FMF) is the most common autoinflammatory disease of Hereditary periodic fevers. FMF is characterized by attacks of periodic fever, aseptic peritonitis, abdominalgia, thoracalgia, arthritis, and other symptoms, typically lasting 2-3 days, once a month in average. FMF is monogenic disease with autosom-recessive type of inheritance in most cases. Although in populations with high frequency of FMF there is evidence of clinical manifestations among heterozygous patients. The aim of this study is to show our comparative data on FMF phenotypic manifestations among heterozygous and homozygous patients with the most common mutation in Armenian population.
About the Authors
H. S. Hayrapetyan
Center of Medical Genetics and Primary Health Care; Yerevan State Medical University after Mkhitar Heratsi
Russian Federation
Russian Federation
T. F. Sarkisian
Center of Medical Genetics and Primary Health Care; Yerevan State Medical University after Mkhitar Heratsi
Russian Federation
Russian Federation
S. A. Atoyan
Center of Medical Genetics and Primary Health Care; Yerevan State Medical University after Mkhitar Heratsi
Russian Federation
Russian Federation
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Review
For citations:
Hayrapetyan H.S., Sarkisian T.F., Atoyan S.A. Phenotype-genotype comperative charactristics of FMF heterozygous patients with the homozygous patients for the same mutations. Medical Genetics. 2016;15(10):45-49. (In Russ.)
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