Excess of Rare Missense Variants in Hearing Loss Genes in Sporadic Meniere Disease
نویسندگان
چکیده
منابع مشابه
Sensorineural hearing loss in sporadic congenital hypothyroidism.
Hearing acuity was assessed in 45 children with sporadic congenital hypothyroidism during adequate long-term treatment. Otoscopy was performed in each and additional tympanometry in some of them. Secretory otitis media was found in 6 and was treated medically or by inserting grommets in the eardrum. In these children, hearing acuity was assessed after the otitis had been cured. Hearing acuity w...
متن کاملBurden of rare variants in ALS genes influences survival in familial and sporadic ALS
Genetic variants are implicated in the development of amyotrophic lateral sclerosis (ALS), but it is unclear whether the burden of rare variants in ALS genes has an effect on survival. We performed whole genome sequencing on 8 familial ALS (FALS) patients with superoxide dismutase 1 (SOD1) mutation and whole exome sequencing on 46 sporadic ALS (SALS) patients living in Hong Kong and found that ...
متن کاملmolecular pathology of 6 novel gjb2 allelic variants detected in familial and sporadic iranian non syndromic hearing loss cases
background: mutations of gjb2 gene encoding connexion 26 are the most common cause of hearing loss in many populations. a very wide spectrum of gjb2 gene mutations associated with hearing loss have been detected but pathogenic role has been tested only for a part of them. in this study, we have provided genetic evidence on the pathogenicity of our previously reported novel gjb2 allelic varian...
متن کاملExcess of rare variants in non-genome-wide association study candidate genes in patients with hypertriglyceridemia.
BACKGROUND Rare variant accumulation studies can implicate genes in disease susceptibility when a significant burden is observed in patients versus control subjects. Such analyses might be particularly useful for candidate genes that are selected based on experiments other than genome-wide association studies (GWAS). We sought to determine whether rare variants in non-GWAS candidate genes ident...
متن کاملRare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis
Genetic factors have been suggested to be involved in the pathogenesis of sporadic inclusion body myositis (sIBM). Sequestosome 1 (SQSTM1) and valosin-containing protein (VCP) are 2 key genes associated with several neurodegenerative disorders but have yet to be thoroughly investigated in sIBM. A candidate gene analysis was conducted using whole-exome sequencing data from 181 sIBM patients, and...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Frontiers in Genetics
سال: 2019
ISSN: 1664-8021
DOI: 10.3389/fgene.2019.00076