Other

Cedars-sinai Medical Center

Nathan Fischel-Ghodsian

Francis S Collins

Darrell Orlyn Ricke

Robert I Richards

Toni Rita Prezant

Deborah L Gumucio

Zuoming Deng

Michael Centola

Ivona Aksentijevichh

P Paul Liu

Daniel L Kastner

Norman A Doggett

Trevor Blake

Mordechai Pras

Ramen Sood

The invention provides the nucleic acid sequence encoding the protein associated with familial Mediterranean fever (FMF). The cDNA sequence is designated as MEFV. The invention is also directed towards fragments of the DNA sequence, as well as the corresponding sequence for the RNA transcript and fragments thereof. Another aspect of the invention provides the amino acid sequence for a protein (pyrin) associated with FMF. The invention is directed towards both the full length amino acid sequence, fusion proteins containing the amino acid sequence and fragments thereof. The invention is also directed towards mutants of the nucleic acid and amino acid sequences associated with FMF. In particular, the invention discloses three missense mutations, clustered in within about 40 to 50 amino acids, in the highly conserved rfp (B30.2) domain at the C-terminal of the protein. These mutants include M6801, M694V, K695R, and V726A. Additionally, the invention includes methods for diagnosing a patient at risk for having FMF and kits therefor.

Pyrin gene and mutants thereof, which cause familial Mediterranean fever

Method for detection of mitochondrial nucleotide associated with predisposition for ototoxic deafness, especially deafness associated with the administration of aminoglycosides, is described.

Method for detection of susceptibility mutations for ototoxic deafness

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Los Angeles, CA, United States of America

Nathan Fischel-Ghodsian