Unique spectrum of MEFV mutations in Iranian Jewish FMF patients--clinical and demographic significance.

Unique spectrum of MEFV mutations in Iranian Jewish FMF patients--clinical and demographic significance. Research Abstract Details 

Research Abstract Table of Contents

Jump to the:

Unique spectrum of MEFV mutations in Iranian Jewish FMF patients--clinical and demographic significance. Abstract Text:

Y Shinar,I Kuchuk,S Menasherow,M Kolet,M Lidar,P Langevitz,A Livneh,Y Shinar,I Kuchuk,S Menasherow,M Kolet,M Lidar,P Langevitz,A Livneh,Y Shinar,I Kuchuk,S Menasherow,M Kolet,M Lidar,P Langevitz,A Livneh,

OBJECTIVES: To determine the spectrum of mutations in the Mediterranean fever gene (MEFV) of Iranian Jews with familial Mediterranean fever (FMF) and to analyse their clinical manifestations. METHODS: FMF patients with both parents of Iranian-Jewish (IJ) extraction or with one IJ parent (IJ-other, 10 of each) were characterized for clinical manifestations, and the B30.2 (PRYSPRY) domain of their MEFV was sequenced for mutations. RESULTS: Only one rare mutation, R653H, and one new mutation, G632S were present in the IJ group (in 2/10 patients), whereas the new, and common mutations were present in the IJ-other patients (8/10 patients). The new mutation was traced thrice to an IJ ancestor, and although carried asymptomatically by family members, it was over-represented in the patients (3/28 unrelated IJ alleles) compared non-affected IJ subjects (1/126 alleles, P = 0.03) or with non-Jewish Iranians (0/108 alleles, P = 0.001). The mutation was associated with a distinct phenotype regarding sites involved in the attack (P = 0.001), mild severity, sole expression of febrile episodes (P = 0.01) and a male bias (P = 0.01). In two 3D PRYSPRY models the G632S mutation was localized to a surface loop and close to a putative binding site. CONCLUSIONS: Iranian Jews with FMF have a unique spectrum of mutations including a newly described mutation with a non-typical phenotype.

Unique spectrum of MEFV mutations in Iranian Jewish FMF patients--clinical and demographic significance. Publishing Authors By Initials

Y Shinar,I Kuchuk,S Menasherow,M Kolet,M Lidar,P Langevitz,A Livneh,Y Shinar,I Kuchuk,S Menasherow,M Kolet,M Lidar,P Langevitz,A Livneh,Y Shinar,I Kuchuk,S Menasherow,M Kolet,M Lidar,P Langevitz,A Livneh,

For similar abstracts research abstracts see: abstracts research

PUBMED ID PMID:

MEDLINE DATE:

Unique spectrum of MEFV mutations in Iranian Jewish FMF patients--clinical and demographic significance. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Rheumatology (Oxford, England)

VOLUME: 46

Page Numbers: 1718-22

Journal Abbreviation: Rheumatology (Oxford)

ISSN: 1462-0324

DAY: 15

MONTH: 10

YEAR: 2007

Unique spectrum of MEFV mutations in Iranian Jewish FMF patients--clinical and demographic significance. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 100883501

Unique spectrum of MEFV mutations in Iranian Jewish FMF patients--clinical and demographic significance. Keywords Mesh Terms:

KEYWORDS:

MESH TERMS:

Chemical & Substance for Abstract: Unique spectrum of MEFV mutations in Iranian Jewish FMF patients--clinical and demographic significance. Information

Substance Name:

Registry Number:

Grant and Affiliation Information for Unique spectrum of MEFV mutations in Iranian Jewish FMF patients--clinical and demographic significance.

AFFILIATION: Heller Institute, Sheba Medical Center, Tel Hashomer 52621, Israel. yshinar@sheba.health.gov.il

Country: England

AGENCY:

GRANT:

ACRONYM:

MEDLINETA: Rheumatology (Oxford)

REFSOURCE:

DATABASENAME:

ACCESSION NUMBER:

Number Hits: 0

Unique spectrum of MEFV mutations in Iranian Jewish FMF patients--clinical and demographic significance Related Publications

• Analysis of strand transfer and template switching mechanisms of DNA gap repair by homologous recombination in Escherichiacoli: predominance of strand transfer.
• Appendectomy in familial Mediterranean fever: clinical, genetic and pathological findings.
• Biochemical analysis of UV mutagenesis in Escherichia coli by using a cell-free reaction coupled to a bioassay: identification of a DNA repair-dependent, replication-independent pathway.
• DNA repair of oxidative DNA damage in human carcinogenesis: Potential application for cancer risk assessment and prevention.
• Familial Mediterranean fever and cryptogenic cirrhosis.
• Familial Mediterranean fever gene and protection against asthma.
• Familial Mediterranean fever: clinical, molecular and management advancements.
• Interferon-alpha as a Treatment Modality for Colchicine- Resistant Familial Mediterranean Fever.
• MEFV mutations and palindromic rheumatism: Comment on the article by Cañete et al.
• Mutations in the familial Mediterranean fever gene of patients with IgA nephropathy and other forms of glomerulonephritis.
• PKCeta expression contributes to the resistance of Hodgkin's lymphoma cell lines to apoptosis.
• Reduced efficiency and increased mutagenicity of translesion DNA synthesis across a TT cyclobutane pyrimidine dimer, but not a TT 6-4 photoproduct, in human cells lacking DNA polymerase eta.
• Reduced repair of the oxidative 8-oxoguanine DNA damage and risk of head and neck cancer.
• Single-stranded DNA-binding Protein Recruits DNA Polymerase V to Primer Termini on RecA-coated DNA.
• Unique spectrum of MEFV mutations in Iranian Jewish FMF patients--clinical and demographic significance.
• [Aspirin and endoscopy]
• [ECG changes during stroke]
• [Neurogenic pulmonary edema]