title: Egyptian tale from India: application of whole-exome sequencing in diagnosis of atypical familial Mediterranean fever.
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.
authors.affiliation: Department of Rheumatology, Christian Medical College and Hospital, Vellore, India.
authors.forename: Pulukool
authors.initials: P
authors.lastname: Sandhya
authors.affiliation: Genomics and Molecular Medicine, CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India.|Academy of Scientific and Innovative Research (AcSIR), Delhi, India.
authors.forename: Shamsudheen Karuthedath
authors.initials: SK
authors.lastname: Vellarikkal
authors.affiliation: Department of Rheumatology, Christian Medical College and Hospital, Vellore, India.
authors.forename: Aswin
authors.initials: A
authors.lastname: Nair
authors.affiliation: Genomics and Molecular Medicine, CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India.
authors.forename: Rowmika
authors.initials: R
authors.lastname: Ravi
authors.affiliation: Department of Rheumatology, Christian Medical College and Hospital, Vellore, India.
authors.forename: John
authors.initials: J
authors.lastname: Mathew
authors.affiliation: Genomics and Molecular Medicine, CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India.
authors.forename: Rijith
authors.initials: R
authors.lastname: Jayarajan
authors.affiliation: Genomics and Molecular Medicine, CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India.
authors.forename: Anoop
authors.initials: A
authors.lastname: Kumar
authors.affiliation: Genomics and Molecular Medicine, CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India.
authors.forename: Ankit
authors.initials: A
authors.lastname: Verma
authors.affiliation: Academy of Scientific and Innovative Research (AcSIR), Delhi, India.|GN Ramachandran Knowledge Center for Genome Informatics, CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India.
authors.forename: Ambily
authors.initials: A
authors.lastname: Sivadas
authors.affiliation: Department of Rheumatology, Christian Medical College and Hospital, Vellore, India.
authors.forename: Debashish
authors.initials: D
authors.lastname: Danda
authors.affiliation: Genomics and Molecular Medicine, CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India.|Academy of Scientific and Innovative Research (AcSIR), Delhi, India.
authors.forename: Sridhar
authors.initials: S
authors.lastname: Sivasubbu
authors.affiliation: Academy of Scientific and Innovative Research (AcSIR), Delhi, India.|GN Ramachandran Knowledge Center for Genome Informatics, CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India.
authors.forename: Vinod
authors.initials: V
authors.lastname: Scaria
mesh_terms: D000328:Adult; D003241:Consanguinity; D004252:DNA Mutational Analysis / Q000379:methods*; D003937:Diagnosis, Differential; D004534:Egypt / Q000208:ethnology; D010505:Familial Mediterranean Fever / Q000175:diagnosis / Q000188:drug therapy / Q000208:ethnology / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006579:Heterozygote; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011237:Predictive Value of Tests; D000071198:Pyrin / Q000235:genetics*; D000073359:Exome Sequencing
chemical_list: C000604192:MEFV protein, human; D000071198:Pyrin
keywords: India; MEFV; adult-onset Still's disease; familial Mediterranean fever; whole exome sequencing