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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1038/sj.ejhg.5201065 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Hearing and Vestibular Impairment Related to a Variant (c.263G>C) of the COCH Gene.
Otolaryngol Head Neck Surg
December 2024
Department of Otolaryngology, Marqués de Valdecilla University Hospital, Santander, Spain.
Article Synopsis
- - The study investigates the frequency and types of pathogenic variants in the COCH gene among Cantabrian patients with nonsyndromic hereditary hearing loss, focusing on their cochleovestibular symptoms.
- - A cohort of 248 patients with postlingual nonsyndromic sensorineural hearing loss underwent next-generation genetic testing, which revealed that 22.8% had pathogenic variants, with specific attention given to the c.263G>C variant in the COCH gene.
- - Findings indicate that COCH gene variants are common in the region studied, particularly the c.263G>C variant, which is linked to progressive bilateral hearing loss and vestibular issues, resembling symptoms seen in other similar genetic cases.
Genetic Polymorphisms Associated with Fetal Hemoglobin (HbF) Levels and F-Cell Numbers: A Systematic Review of Genome-Wide Association Studies.
Int J Mol Sci
October 2024
Molecular Genetics Thalassemia Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.
Article Synopsis
- Elevated fetal hemoglobin (HbF) can reduce disease severity in β hemoglobinopathies, and understanding its genetic basis may lead to personalized treatments.
- A systematic review of GWAS studies identified 939 significant SNP-trait associations linked to HbF, focusing on genes primarily located on chromosomes 2, 6, and 11, among others.
- The study emphasizes the need for further research on less frequently associated genetic loci and suggests a focus on diverse populations to improve therapeutic strategies for conditions like sickle cell disease and β-thalassemia.
Characterization of Vestibular Phenotypes in Patients with Genetic Hearing Loss.
J Clin Med
March 2024
Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul 03722, Republic of Korea.
Article Synopsis
- Genetic testing and vestibular function tests were conducted on 627 patients with genetic hearing loss, revealing that 22.8% experienced vestibular symptoms.
- Genetic variations were found in 31.5% of those with symptoms, linking 19 deafness genes to these vestibular issues, primarily vertigo.
- Different tests indicated reduced vestibular function in various proportions of patients, with autosomal recessive cases showing significantly more abnormalities than autosomal dominant ones.
Intensive ammonium fertilizer addition activates iron and carbon conversion coupled cadmium redistribution in a paddy soil under gradient redox conditions.
Sci Total Environ
June 2024
Environmental Contaminants Group, Future Industries Institute, University of South Australian, Mawson Lakes, SA 5095, Australia. Electronic address:
While over-fertilization and nitrogen deposition can lead to the enrichment of nitrogen in soil, its effects on heavy metal fractions under gradient moisture conditions remains unclear. Here, the effect of intensive ammonium (NH) addition on the conversion and interaction of cadmium (Cd), iron (Fe) and carbon (C) was studied. At relatively low (30-80 %) water hold capacity (WHC) NH application increased the carbonate bound Cd fraction (F2Cd), while at relatively high (80-100 %) WHC NH application increased the organic matter bound Cd fraction (F4Cd).
View Article and Find Full Text PDFIdentification of colon cancer subtypes based on multi-omics data-construction of methylation markers for immunotherapy.
Front Oncol
January 2024
Department of Outpatient Chemotherapy, Harbin Medical University Cancer Hospital, Harbin, China.
Background: Being the most widely used biomarker for immunotherapy, the microsatellite status has limitations in identifying all patients who benefit in clinical practice. It is essential to identify additional biomarkers to guide immunotherapy. Aberrant DNA methylation is consistently associated with changes in the anti-tumor immune response, which can promote tumor progression.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!