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E gyptian tale from I ndia: application of whole‐exome sequencing in diagnosis of atypical familial M editerranean fever
Author(s) -
Sandhya Pulukool,
Vellarikkal Shamsudheen Karuthedath,
Nair Aswin,
Ravi Rowmika,
Mathew John,
Jayarajan Rijith,
Kumar Anoop,
Verma Ankit,
Sivadas Ambily,
Danda Debashish,
Sivasubbu Sridhar,
Scaria Vinod
Publication year - 2017
Publication title -
international journal of rheumatic diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.795
H-Index - 41
eISSN - 1756-185X
pISSN - 1756-1841
DOI - 10.1111/1756-185x.13042
Subject(s) - medicine , exome sequencing , computational biology , microbiology and biotechnology , genetics , mutation , gene , biology
Abstract Clinical diagnosis of autoinflammatory diseases requires a high degree of clinical suspicion and clinching molecular evidence to substantiate the diagnosis. This is more so in populations with low prevalence of these disorders. In this report, we describe the case of a young man from India with recurrent fever and persistent arthritis. The patient's forefathers were of Egyptian ancestry who practiced consanguinity. Molecular genetic analysis using whole‐exome sequencing suggested the presence of variants c.443A>T:p.E148V and c.442G>C:p.E148Q in the MEFV gene, earlier independently shown to be associated with familial Mediterranean fever ( FMF ) in a compound heterozygous state. The variants were further confirmed by capillary sequencing. This report also highlights the application of whole exome sequencing to delineate the allelic differences in the variants apart from serving as a quick genetic screening approach for autoinflammatory diseases. To the best of our knowledge, this is the first report of a compound heterozygosity for the two well‐characterized variants associated with atypical FMF in a patient.