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Paper Information

Journal:   JOURNAL OF ADVANCES IN MEDICAL AND BIOMEDICAL RESEARCH   SPRING 2007 , Volume 14 , Number 58; Page(s) 74 To 80.
 
Paper: 

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

 
 
Author(s):  MIRZA AHMADI S., FARAJNIA SAFAR, RAFIEI MANDANA, SOUMI M.H., NAKHLBAND A., REZAEI HANIEH, MOHAMMADNEZHAD L.
 
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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.

 
Keyword(s): FMF, COMPOUND HETEROZYGOTE, MUTATIONS, EARLY ONSET
 
 
References: 
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Citations: 
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APA: Copy

MIRZA AHMADI, S., & FARAJNIA, S., & RAFIEI, M., & SOUMI, M., & NAKHLBAND, A., & REZAEI, H., & 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. https://www.sid.ir/en/journal/ViewPaper.aspx?id=110468



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. 2007 [cited 2021October25];14(58):74-80. Available from: https://www.sid.ir/en/journal/ViewPaper.aspx?id=110468



IEEE: Copy

MIRZA AHMADI, S., FARAJNIA, S., RAFIEI, M., SOUMI, M., NAKHLBAND, A., REZAEI, H., 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, [online] 14(58), pp.74-80. Available: https://www.sid.ir/en/journal/ViewPaper.aspx?id=110468.



 
 
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