Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort
| Autor: | Shinichiro Oka, Shin-ichi Usami, Chie Oshikawa, Mayuri Okami, Shin Ichi Goto, Satoshi Iwasaki, Naoko Sakuma, Yohei Honkura, Karuna Maekawa, Yumiko Kobayashi, Masayuki Shirakura, Hajime Sano, Yukihiko Kanda, Satoko Abe, Shin-ya Nishio, Natsumi Uehara |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Oncology Male 0302 clinical medicine Child Genetics (clinical) LOXHD1 Middle Aged Phenotype Vestibule Child Preschool Cohort Female medicine.symptom Adult DFNB77 medicine.medical_specialty Adolescent Genotype lcsh:QH426-470 Hearing loss DNA sequencing Article 03 medical and health sciences Young Adult Asian People Internal medicine Genetics medicine otorhinolaryngologic diseases Humans Hearing Loss Gene Cochlea Aged business.industry recurrent variation Haplotype Infant Newborn Genetic Variation Infant non-syndromic hearing loss Sequence Analysis DNA cochlear implantation lcsh:Genetics 030104 developmental biology haplotype analysis Mutation business Carrier Proteins 030217 neurology & neurosurgery |
| Zdroj: | Genes, Vol 10, Iss 10, p 735 (2019) Genes Volume 10 Issue 10 |
| ISSN: | 2073-4425 |
| Popis: | Variants of the LOXHD1 gene, which are expressed in hair cells of the cochlea and vestibule, have been reported to cause a progressive form of autosomal recessive non-syndromic hereditary hearing loss, DFNB77. In this study, genetic screening was conducted on 8074 Japanese hearing loss patients utilizing massively parallel DNA sequencing to identify individuals with LOXHD1 variants and to assess their phenotypes. A total of 28 affected individuals and 21 LOXHD1 variants were identified, among which 13 were novel variants. A recurrent variant c.4212 + 1G > A, only reported in Japanese patients, was detected in 18 individuals. Haplotype analysis implied that this variation occurred in a mutational hot spot, and that multiple ancestors of Japanese population had this variation. Patients with LOXHD1 variations mostly showed early onset hearing loss and presented different progression rates. We speculated that the varying severities and progression rates of hearing loss are the result of environmental and/or other genetic factors. No accompanying symptoms, including vestibular dysfunction, with hearing loss were detected in this study. Few studies have reported the clinical features of LOXHD1-gene associated hearing loss, and this study is by far the largest study focused on the evaluation of this gene. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|