GENETIC INVESTIGATION OF A CASE OF ACUTE FAMILIAL MEDITERRANEAN FEVER(FMF) WITH THE ONSET IN NEONATAL PERIOD

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MIRZA AHMADI S.; FARAJNIA SAFAR; RAFIEI MANDANA; SOUMI M.H.; NAKHLBAND A.; REZAEI HANIEH; MOHAMMADNEZHAD L.

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Journal: Journal of Advances in Medical and Biomedical Research Year:2007 | Volume:14 | Issue:58 Page(s): 74-80

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Title

GENETIC INVESTIGATION OF A CASE OF ACUTE FAMILIAL MEDITERRANEAN FEVER(FMF) WITH THE ONSET IN NEONATAL PERIOD

Author(s)

Keywords

FMFQ3

COMPOUND HETEROZYGOTEQ3

MUTATIONSQ3

EARLY ONSETQ3

Abstract

Background & objective: FMF is an autosomal recessive genetic disorder characterized by acute episodes of fever accompanied by severe abdominal pain, pleurisy, arthritis, and skin rashes. Clinical symptoms of the disease vary considerably in patients, and little is known about the origin of this variation. This study investigates a male patient suffering from severe FMF and his parents.Materials & Methods: The subject was a six-month-old boy with recurrent fever accompanied by severe abdominal pain and skin rashes. Molecular screening was conducted through polymerase chain reaction (PCR) and sequencing exon10 of MEFV gene.Results: The investigation to indentify common MUTATIONS, using ARMS-PCR and exon 10 sequencing revealed an M697/M680I COMPOUND HETEROZYGOTE mutation in exon 10 of the related gene. Patient's father and mother were heterozygote for MUTATIONS M680I and M694V, respectively without having the history of FMF attacks.Conclusions: It seems that accompaniment of MUTATIONS M680I and M694V even in COMPOUND HETEROZYGOTE form might lead to severe phenotype FMF. This is the first report of EARLY ONSET and severe phenotype FMF case associated with a 694V/680I COMPOUND HETEROZYGOTE mutation in Iran.

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APA: Copy

MIRZA AHMADI, S., FARAJNIA, SAFAR, RAFIEI, MANDANA, SOUMI, M.H., NAKHLBAND, A., REZAEI, HANIEH, & MOHAMMADNEZHAD, L.. (2007). GENETIC INVESTIGATION OF A CASE OF ACUTE FAMILIAL MEDITERRANEAN FEVER(FMF) WITH THE ONSET IN NEONATAL PERIOD. JOURNAL OF ADVANCES IN MEDICAL AND BIOMEDICAL RESEARCH, 14(58), 74-80. SID. https://sid.ir/paper/61561/en

Vancouver: Copy

MIRZA AHMADI S., FARAJNIA SAFAR, RAFIEI MANDANA, SOUMI M.H., NAKHLBAND A., REZAEI HANIEH, MOHAMMADNEZHAD L.. GENETIC INVESTIGATION OF A CASE OF ACUTE FAMILIAL MEDITERRANEAN FEVER(FMF) WITH THE ONSET IN NEONATAL PERIOD. JOURNAL OF ADVANCES IN MEDICAL AND BIOMEDICAL RESEARCH[Internet]. 2007;14(58):74-80. Available from: https://sid.ir/paper/61561/en

IEEE: Copy

S. MIRZA AHMADI, SAFAR FARAJNIA, MANDANA RAFIEI, M.H. SOUMI, A. NAKHLBAND, HANIEH REZAEI, and L. MOHAMMADNEZHAD, “GENETIC INVESTIGATION OF A CASE OF ACUTE FAMILIAL MEDITERRANEAN FEVER(FMF) WITH THE ONSET IN NEONATAL PERIOD,” JOURNAL OF ADVANCES IN MEDICAL AND BIOMEDICAL RESEARCH, vol. 14, no. 58, pp. 74–80, 2007, [Online]. Available: https://sid.ir/paper/61561/en

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