Evidence map›Paper›PMID 39620501›Full record

ArticleMolecular genetics & genomic medicine2024

A Novel Mutation Located in the N-Terminal Domain of MYO15A Caused Sensorineural Hearing Loss.

Yanli Wang, Zengping Liu, Yong Li, Zhipeng Nie, Baicheng Xu, Yiming Zhu, Shihong Duan, Xingjian Chen, Huan Tan, Jiong Dang and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Yanli WangDepartment of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou, Gansu, China.
Zengping LiuDepartment of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou, Gansu, China.
Yong LiDepartment of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou, Gansu, China.
Zhipeng NieInstitute of Genetics, Zhejiang University School of Medicine, Zhejiang, Hangzhou, China.
Baicheng XuDepartment of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou, Gansu, China.
Yiming ZhuDepartment of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou, Gansu, China.
Shihong DuanDepartment of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou, Gansu, China.
Xingjian ChenDepartment of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou, Gansu, China.
Huan TanDepartment of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou, Gansu, China.
Jiong DangDepartment of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou, Gansu, China.
Minxin GuanInstitute of Genetics, Zhejiang University School of Medicine, Zhejiang, Hangzhou, China.
Yufen GuoDepartment of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou, Gansu, China.

Funding

National Natural Science Foundation of China 82160214National Natural Science Foundation of China 82360221Natural Science Foundation of Gansu Province 22JR11RA065
6 · The paper itself

Abstract

backgroundMYO15A 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.

methodsTo 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.

resultsResults 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.

conclusionOur 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.

Indexed as

Hearing Loss, SensorineuralMyosinsCells, CulturedHomozygoteHumansInduced Pluripotent Stem CellsMutationPedigreeProtein DomainsMYO15A protein, humanMyosinsdeafnesshair cell‐like cellinduced pluripotent stem cells (iPSCs)MYO15Anovel mutation

Identifiers

PMID39620501
PMCPMC11609997

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.