Asset Details
Do you wish to reserve the book?
A Novel Mutation Located in the N‐Terminal Domain of MYO15A Caused Sensorineural Hearing Loss
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
A Novel Mutation Located in the N‐Terminal Domain of MYO15A Caused Sensorineural Hearing Loss
Do you wish to request the book?
A Novel Mutation Located in the N‐Terminal Domain of MYO15A Caused Sensorineural Hearing Loss
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
A Novel Mutation Located in the N‐Terminal Domain of MYO15A Caused Sensorineural Hearing Loss
2024
Overview
Background MYO15A is one of the common genes of severe‐to‐profound sensorineural deafness. Mutations in this gene can cause both pre‐ and post‐lingual hearing losses. In this study, a novel MYO15A variant (c.2482C>T) was identified to be associated with autosomal recessive non‐syndromic hearing loss (ARNSHL) in a Chinese Uighur family. Methods To examine the effects of the MYO15A mutation on the morphology and function of the derived hair cell‐like cells, two iPSCs were generated separately from the proband and a mutation‐negative family member and those were then induced to hair cell‐like cells. Results Results showed that this homozygous MYO15A mutation (PVS1 + PM2 + PP1 + PP3), which is located in the N‐terminal domain, displayed significant differences in the morphology and function of hair cell‐like cells between the proband and the normal control, although it had no effect on the totipotency of iPSCs. Conclusion Our study demonstrates that the novel variant c.2482C>T in the MYO15A gene may cause inner ear hair cell dysfunction and audiological disorders in this family. Two iPSCs were generated separately from the proband and a mutation‐negative family member, and those were then induced to hair cell‐like cells to examine the effects of the MYO15A mutation (c.2482C>T) on the morphology and function of those cells. Results demonstrate that the novel mutation may cause inner ear hair cell dysfunction and audiological disorders.
Publisher
John Wiley & Sons, Inc,John Wiley and Sons Inc,Wiley
Subject
/ Deafness
/ Genes
/ Hair
/ Hearing Loss, Sensorineural - genetics
/ Hearing Loss, Sensorineural - pathology
/ Humans
/ induced pluripotent stem cells (iPSCs)
/ Induced Pluripotent Stem Cells - metabolism
/ Induced Pluripotent Stem Cells - pathology
/ Mutation
/ MYO15A
/ Original
/ Pedigree
/ Software
