A new MEFV gene mutation in an Iranian patient with familial Mediterranean fever

Reumatismo

G. Romeo¹  M. Moghtaderi²  S. Farjadian³  F. Bonatti⁴  A. Percesepe⁴  A. Soriano⁵  C. Graziano⁶  D. Martorana⁶  A. Adorni⁷  M. Reina⁷ 

[1] Unit of Medical Genetics, University Hospital of Parma;Allergy Clinic, Ali-Asghar Hospital, Shiraz University of Sciences, Shiraz;Department of Immunology, Shiraz University of Medical Sciences, Shiraz;Department of Medicine and Surgery, University of Parma, Parma;Division of Rheumatology, Arcispedale S. Maria Nuova di Reggio Emilia and Campus Bio-Medico University of Rome;Medical Genetics Unit - S. Orsola Hospital, University of Bologna;Unit of Medical Genetics, University Hospital of Parma;

关键词: Familial Mediterranean fever;    MEFV gene;    new mutation;    autoinflammatory disorders;    Pyrin protein.;   

DOI  :  10.4081/reumatismo.2019.1141

来源: DOAJ

【 摘 要 】

Familial mediterranean fever (FMF) is an inherited autoinflammatory disorder characterized by recurrent episodes of fever and painful inflammation involving the intra-abdominal organs, the lungs and the joints, which is highly prevalent in specific ethnic groups including the Iranians. We report a 12-year-old boy from Iran, with a clinical history of recurrent fever. Based on the suggestive clinical data, mutational analysis revealed the presence of the novel c.1945C>T heterozygous variant in exon 10, which leads to a leucine to phenylalanine change at position 649 of the protein. The mutation was inherited from the mother. This novel mutation lies in exon 10 of the MEFV gene, which encodes for a domain called B30.2-SPRY, located in the C-terminal region of the pyrin protein and contains the most frequent mutations associated with FMF. The present report expands the spectrum of MEFV gene mutations associated with FMF. The uniqueness of this study, compared with other published case reports, consists in the new mutation found in the MEFV gene. In fact, new mutations in this gene are of high interest, in order to better understand the role of this gene in autoinflammation.

【 授权许可】

Unknown