Short Report
European Journal of Human Genetics (2004) 12, 75–78. doi:10.1038/sj.ejhg.5201065
Absence of COCH mutations in patients with Meniere disease
Elena Sanchez1, Jose A López-Escámez2, Miguel A López-Nevot3, Alicia López-Nevot4, Rosario Cortes4 and Javier Martin1
- 1Instituto de Parasitología y Biomedicina 'Lopez-Neyra', CSIC, Granada, Spain
- 2Department of Surgery, Division of Otorhinolaryngology, Hospital de Poniente, El Ejido, Almería, Spain
- 3Department of Immunology, Hospital Universitario Virgen de las Nieves, Granada, Spain
- 4Department of Otolaryngology, Hospital Universitario Virgen de las Nieves, Granada, Spain
Correspondence: Dr JA López-Escámez, Department of Surgery, Division of Otorhinolaryngology, Hospital de Poniente, El Ejido, Almeria 04700, Spain. Tel: +34 950 022653; Fax: +34 950 022 500; E-mail: jalopeze@cajamar.es
Received 8 March 2003; Revised 4 June 2003; Accepted 10 June 2003.
Abstract
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.
Keywords:
genetic vertigo, hereditary hearing loss, inner ear, controlled studies
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