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

A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family.

International journal of pediatric otorhinolaryngology - 1 Aug 2017

He Xiaoguang, Peng Qi, Li Siping, Zhu Pengyuan, Wu Chunqiu, Rao Chunbao, Lin Jingqi, Lu Xiaomei

Abstract excerpt

OBJECTIVES: We aimed to investigate the genetic causes of hearing loss in a Chinese proband with autosomal recessive congenital deafness. METHODS: The targeted capture of 159 known deafness genes and next-generation sequencing were performed to study the genetic causes of hearing loss in the Chinese family. Sanger sequencing was employed to verify the variant mutations in members of this family. RESULTS: The...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Audiometry

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Hearing Loss, Sensorineural

Share to High-Throughput Nucleotide Sequencing

Share to Myosin VIIa

Share to Myosins

Share to Usher Syndromes

Source

Identifiers

PMID: 28688563
DOI: 10.1016/j.ijporl.2017.05.021

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family.PMID 28688563Read ↗

Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family.Semantic proximity Read ↗

Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.Semantic proximity Read ↗

Novel compound heterozygous mutations in MYO7A gene associated with autosomal recessive sensorineural hearing loss in a Chinese family.Semantic proximity Read ↗

Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree.Semantic proximity Read ↗

A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder.Semantic proximity Read ↗

New splice site mutations in MYO7A causing Usher syndrome type 1: a study on a Chinese consanguineous family.Semantic proximity Read ↗

Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutations.Semantic proximity Read ↗

Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.Semantic proximity Read ↗

Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family.Semantic proximity Read ↗

The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.Semantic proximity Read ↗

A novel compound heterozygous variant of MYO7A in Usher syndrome type 1.Semantic proximity Read ↗

Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.Semantic proximity Read ↗

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