Rubinstein-Taybi syndrome and familial Mediterranean fever in a single patient: Two distinct genetic diseases located on chromosome 16p13.3

Journal of the National Medical Association

Volumn 98, Issue 10, 2006, Pages 1692-1693

  Kalyoncu, Umut ^a,b   Tufan, Abdurrahman ^a,b   Karadag, Orner ^a,b   Kisacik, Bunyamin ^a,b   Akdogan, Ali ^a,b   Calguneri, Meral ^a,b  

^a Hacettepe University ^*

^b HACETTEPE UNIVERSITY   (Turkey)

Author keywords

Chromosome 16p13.3; Familial Mediterranean fever; Rubinstein Taybi syndrome

Indexed keywords

COLCHICINE; CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN;

ADULT; ANAMNESIS; ARTHRITIS; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHROMOSOME 16P; CHROMOSOME DELETION; CLINICAL FEATURE; FAMILIAL MEDITERRANEAN FEVER; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; GENETIC CODE; GENETIC DISORDER; HUMAN; HUMAN CELL; LABORATORY TEST; MALE; PERITONITIS; PLEURISY; PRIORITY JOURNAL; RECURRENT DISEASE; RUBINSTEIN SYNDROME;

ADOLESCENT; CHROMOSOMES, HUMAN, PAIR 16; CYTOSKELETAL PROTEINS; DIAGNOSIS, DIFFERENTIAL; DNA; FAMILIAL MEDITERRANEAN FEVER; GENE EXPRESSION; HUMANS; MALE; POINT MUTATION; RUBINSTEIN-TAYBI SYNDROME; SEQUENCE ANALYSIS, DNA;

EID: 33750599185     PISSN: 00279684     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (8)

1. Rubinstein JH, Taybi H. Broad thumbs and toes and facial abnormalities. Am J Dis Child. 1963;105:88-108.
2. Hennekam RCM, Stevens CA, Van De Kamp JJ. Etiology and recurrence risk in Rubinstein-Taybi syndrome. Am J Med Genet Suppl. 1990;6:56-64.
3. Hou JW. Rubinstein-Taybi syndrome: clinical and molecular cytogenetic studies. Acta Paediatr Taiwan. 2005;46:143-148.
4. Bakkaloglu A. Familial Mediterranean fever. Pediatr Nephrol. 2003; 18(9):853-859.
5. www.genecards.org/cgi-bin/carddisp?CREBBP&search=16p13.3.
6. Rouaux C, Loeffler JP, Boutillier AL. Targeting CREB-binding protein (CBP) loss of function as a therapeutic strategy in neurological disorders. Biochem Pharmacol. 2004;15:1157-1164.
7. www.genecards.org/cgi-bin/carddisp?MEFV&search=16p13.3.
8. Centola M, Aksentijevich I, Kastner DL. The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases. Hum Mol Genet. 1998;7(10):1581-1588.