Absence of COCH mutations in patients with Meniere disease.
Missense mutations in the coagulation factor C homology (COCH) gene (14q12-q13) cause the autosomal dominant sensorineural hearing loss and vestibular disorder DFNA9 (OMIM 603196), and a high prevalence of symptoms of Meniere disease (MD) has been described in families with a mutation in the COCH gene. In this study, we search for mutations in the COCH gene in peripheral blood from patients with definite MD. DNA was extracted from peripheral blood cells of 30 individuals with MD and 30 controls. Exons 4 and 5 of the COCH gene were amplified by PCR reaction, using primer pairs flanking both exons. Sequences were analysed by a DNA sequencing system and compared with the published COCH cDNA sequence. No differences were found in the nucleotide sequences of exons 4 and 5 in the COCH gene in patients with definite sporadic MD when they were compared with the control group. Patients with definite MD have a low prevalence of mutations in exons 4 and 5 of the COCH gene.
Sanchez
Elena
E
Instituto de Parasitología y Biomedicina Lopez-Neyra, CSIC, Granada, Spain.
López-Escámez
Jose A
JA
López-Nevot
Miguel A
MA
López-Nevot
Alicia
A
Cortes
Rosario
R
Martin
Javier
J
D002883:Chromosomes, Human, Pair 14; D004252:DNA Mutational Analysis; D005091:Exons; D016326:Extracellular Matrix Proteins; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D008297:Male; D008575:Meniere Disease / Q000097:blood / Q000235:genetics*; D009154:Mutation; D011506:Proteins / Q000235:genetics*
C110668:COCH protein, human; D016326:Extracellular Matrix Proteins; D011506:Proteins