Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification of novel compound heterozygous mutations of the MYO15A gene with autosomal recessive non-syndromic hearing loss.

Journal of clinical laboratory analysis - 1 Oct 2022

Wang Luming, Zhang Yue, Xue Qiuxia, Huang Pinghua, Liu Xiaodan

Abstract excerpt

BACKGROUND: The most common inheritance pattern responsible for congenital deafness belongs to autosomal recessive non-syndromic hearing loss (ARNSHL) and mutations of the highly heterogeneous MYO15A locus are present in a large proportion of cases. METHODS: One Chinese family with ARNSHL was subjected to clinical evaluation and genetic analysis. We used targeted and whole exome sequencing with Sanger sequencing...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Deafness
Share to Exome
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Inheritance Patterns

Share to Mutation

Share to Myosins

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 36217262
DOI: 10.1002/jcla.24653
PMCID: PMC9551133

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of novel compound heterozygous mutations of the MYO15A gene with autosomal recessive non-syndromic hearing loss.PMID 36217262Read ↗

Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss.Semantic proximity Read ↗

Identification of Novel Compound Heterozygous MYO15A Mutations in Two Chinese Families with Autosomal Recessive Nonsyndromic Hearing Loss.Semantic proximity Read ↗

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing.Semantic proximity Read ↗

Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss.Semantic proximity Read ↗

Novel Compound Heterozygous MYO15A Splicing Variants in Autosomal Recessive Non-syndromic Hearing LossSemantic proximity Read ↗

Association of a novel missense mutation in MYO15A with nonsyndromic hearing loss: a case reportSemantic proximity Read ↗

Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families.Semantic proximity Read ↗

Targeted Next-Generation Sequencing Identified Compound Heterozygous Mutations in MYO15A as the Probable Cause of Nonsyndromic Deafness in a Chinese Han Family.Semantic proximity Read ↗

Novel MYO15A variants are associated with hearing loss in the two Iranian pedigrees.Semantic proximity Read ↗

Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.Semantic proximity Read ↗

Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients.Semantic proximity Read ↗

MYO15A splicing mutations in hearing loss: A review literature and report of a novel mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.