A novel MEFV gene mutation (A511V) in a Chilean FMF patient
نویسندگان
چکیده
منابع مشابه
Patient with FMF and Triple MEFV Gene Mutations
INTRODUCTION Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease with monogenic (MEditerranean FeVer -MEFV- gene) inherited pattern. It mainly affects ethnic groups living along the eastern Mediterranean Sea: Turks, Sephardic Jews, Armenians, and Arabs [1]. Today FMF is not rare disease in other Mediterranean ethnicities, such as Greeks, Italians, and Iranians. CAS...
متن کاملFirst report of MEFV duplication in FMF patient
Introduction Familial mediterranean fever (FMF) is a rare monogenic disease and the prototype of autoinflammatory disorders. It is caused by mutations in the MEFV gene and is autosomal recessively inherited. Most mutations are missense substitutions, small deletions are quite rare, and only three nonsense mutation has been described (http://fmf.igh.cnrs. fr/ISSAID/infevers/). Large rearrangemen...
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Familial hypercholesterolemia (FH) is an autosomal co-dominant disorder of lipid metabolism, caused by mutations in LDL receptor gene. The penetrance of FH is almost 100%, meaning that half of the offspring of affected parents born with disease. The patients are at risk of premature coronary heart disease (CHD). There is no report about the molecular basis of FH in Iran. Identification of mutat...
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متن کاملWhole Exome Sequencing Reveals a XPNPEP3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient
Background: Nephronophthisis (NPHP) is a progressive tubulointestinal kidney condition that demonstrates an AR inheritance pattern. Up to now, more than 20 various genes have been detected for NPHP, with NPHP1 as the first one detected. X-prolyl aminopeptidase 3 (XPNPEP3) mutation is related to NPHP-like 1 nephropathy and late onset NPHP. Methods: The proband (index patient) had polyuria, polyd...
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ژورنال
عنوان ژورنال: Egyptian Journal of Medical Human Genetics
سال: 2011
ISSN: 1110-8630
DOI: 10.1016/j.ejmhg.2011.02.010