OR7-002 – Pyrin 577 mutations in dominant autoinflammation
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چکیده
منابع مشابه
OR7-002 – Pyrin 577 mutations in dominant autoinflammation
Results Whole exome sequencing revealed a novel missense sequence variant, not seen in around 6800 controls, mapping to exon 8 of the MEFV gene (c.1730C>A; p.T577N), co-segregating perfectly with disease in this family. Other mutations at the same amino acid (c.1730C>G; p.T577S; c.1729A>T; p.T577S) were found in a family of Turkish descent, with autosomal dominant inheritance of FMF-like phenot...
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Introduction The gene causing familial Mediterranean fever (FMF), MEFV, encodes a protein, pyrin, which is expressed at high levels in granulocytes, monocytes, dendritic cells and in some human myeloid leukemia cell lines, such as THP.1. Studies of pyrin localization show a cell-type dependency. In transfection experiments full-length pyrin is cytoplasmic and associates with the cytoskeleton. H...
متن کاملFamilial Mediterranean fever associated pyrin mutations in Greece.
OBJECTIVE To search for pyrin mutations associated with familial Mediterranean fever (FMF) in Greece. PATIENTS AND METHODS 62 patients fulfilling the Tel Hashomer diagnostic criteria for definite (33) or probable (29) FMF diagnosis were studied. Eight point mutations of pyrin gene were tested by standard methods. Of the 62 patients tested, 48 were Greek, four were Jewish, seven were Armenian,...
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Introduction Loss-of-function mutations in the IL36RN gene define a novel recessively inherited autoinflammatory syndrome named deficiency of IL-36 receptor antagonist (DITRA). This genetically determined deficiency was first described in a subgroup of patients with generalized pustular psoriasis. It is a life-threatening condition characterized by recurrent episodes of severe skin inflammation...
متن کاملOR11-002 - Mutations in MVK cause non-syndromic RP
Methods After detailed clinical characterization including funduscopy and optic coherence tomography, exome sequencing analysis was performed in a proband of Dutch origin with non-syndromic autosomal recessive RP. Identified mutations were tested for segregation within the family and in a large cohort of genetically unsolved RP patients. Upon identification of mutations in MVK, encoding mevalon...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a103