title: Rubinstein-Taybi syndrome and familial Mediterranean fever in a single patient: two distinct genetic diseases located on chromosome 16p13.3.
abstract: Rubinstein-Taybi syndrome (RTS) is characterized by typical facies, short stature, mental retardation, broad thumbs and broad great toes. The syndrome is at least in part caused by microdeletions at chromosome 16p13.3 or by mutations in the gene for the CREB binding protein (CBP), which is located at 16p13.3. Familial Mediterranean fever (FMF) is an autosomal recessive disease, caused by mutations in the FMF-gene [Mediterranean fever (MEFV)] and characterized by recurrent attacks of fever and peritonitis, arthritis and pleuritis. The FMF gene (MEFV) has recently been cloned by two consortia and 30 point mutations, causing the disease have been identified. MEFV maps to chromosome 16p and encodes a 781-amino-acid protein called pyrin or marenostrin, which is expressed mainly in neutrophils and myeloid bone marrow precursors. Herein, we report a case with RTS and FMF.
authors.affiliation: Internal Medicine Division of Rheumatology, Hacettepe University, Ankara, Turkey.
authors.forename: Umut
authors.initials: U
authors.lastname: Kalyoncu
authors.forename: Abdurrahman
authors.initials: A
authors.lastname: Tufan
authors.forename: Omer
authors.initials: O
authors.lastname: Karadag
authors.forename: Bunyamin
authors.initials: B
authors.lastname: Kisacik
authors.forename: Ali
authors.initials: A
authors.lastname: Akdogan
authors.forename: Meral
authors.initials: M
authors.lastname: Calguneri
mesh_terms: D000293:Adolescent; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics; D004247:DNA / Q000235:genetics; D003937:Diagnosis, Differential; D010505:Familial Mediterranean Fever / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D015870:Gene Expression; D006801:Humans; D008297:Male; D017354:Point Mutation; D000071198:Pyrin; D012415:Rubinstein-Taybi Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin; D004247:DNA