Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV.

Aims: The purpose of this study was to identify the genetic causes of a family presenting with multiple symptoms overlapping Usher syndrome type II (USH2) and Waardenburg syndrome type IV (WS4).

Methods: Targeted next-generation sequencing including the exon and flanking intron sequences of 79 deafness genes was performed on the proband. Co-segregation of the disease phenotype and the detected variants were confirmed in all family members by PCR amplification and Sanger sequencing.

A dominant variant in DMXL2 is linked to nonsyndromic hearing loss.

Purpose: To explore the genetic etiology of deafness in a dominant family with late-onset, progressive, nonsyndromic hearing loss.

Methods: Genome-wide linkage analysis was performed for 21 family members. Candidate pathogenic variants were identified by whole-exome sequencing of selected family members and confirmed by Sanger sequencing of all family members.

Mutation in PCDH15 may modify the phenotypic expression of the 7511T>C mutation in MT-TS1 in a Chinese Han family with maternally inherited nonsyndromic hearing loss.

Objectives: Mutations in MT-TS1 have been found to be associated with nonsyndromic sensorineural hearing loss (SNHL). PCDH15 codes for protocadherin-15, a member of the cadherin superfamily of calcium-dependent cell-cell adhesion molecules. In this study, we analyzed the correlation of both MT-TS1 and PCDH15 mutations in a Chinese Han family segregating maternally inherited nonsyndromic SNHL.

Mutation analysis of seven consanguineous Uyghur families with non-syndromic deafness.

Objective: To investigate the genetic causes of consanguineous Uyghur families with nonsyndromic deafness.

Method: Seven consanguineous Uyghur families with nonsyndromic deafness were recruited in this study and characterized for their audiometric phenotype. Mutation analysis of common deafness genes GJB2, SLC26A4 and MT-RNR1 was performed in all families by direct sequencing.

Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family.

Objectives: To characterize the clinical features of a Chinese DFNA9 family associated with a novel COCH mutation and to confirm the proposed genotype-phenotype correlation of COCH.

Methods: Mutation screening of 79 deafness genes was performed in the proband by targeted next-generation sequencing. Co-segregation of the disease phenotype and the detected variants was confirmed in all family members by PCR amplification and Sanger sequencing.

[Screening of SLC26A4 (PDS) gene mutation in cochlear implant recipients with inner ear malformation].

Objective: To determine the prevalence of SLC26A4 (PDS) gene mutations in cochlear implant recipients with inner ear malformation, and the correlation between SLC26A4 (PDS) gene mutation and inner ear malformation and intra-operative testing of the electrically evoked auditory nerve compound action potentials (ECAP).

Methods: Peripheral blood samples were collected from 48 cochlear implant recipients with temporal bone malformation and 50 healthy controls. Genomic DNA was extracted from the blood; PCR and direct sequencing were used to detect the mutations of SLC26A4 (PDS) gene.

[Analysis of genetic mutation in patients with nonsyndromic hearing loss received cochlear implant].

Objective: To investigate the prevalence of mutations of the gap junction protein (GJB) 2 and mitochondria 12SrRNA in patients with nonsyndromic hearing loss who received cochlear implant.

Methods: Genomic DNA was extracted from the peripheral blood samples obtained from 100 Chinese patients who had received cochlear implantation, 96 with prelingual hearing loss and 4 with postlingual hearing loss, all very severe. Sixteen of the 100 patients had the history of application of aminoglycosides, among which 12 were with prelingual hearing loss and 4 with postlingual hearing loss.

[High prevalence of connexin-26 (GJB2) mutation in cochlear implant recipients].

Objective: To determine the prevalence of GJB2 gene mutations in patients undergoing cochlear implantation.

Methods: We enrolled 115 cochlear implant recipients for mutation screening. Genomic DNA was extracted from the blood of all patients, amplified in PCR and analyzed for single strand conformation polymorphism (SSCP) or direct sequencing to detect mutations of GJB2 gene.

[Virtual otoscopy of middle ear structure and pathology].

Objective: To assess the value of high-resolution CT data of the temporal bone for the virtual endoscopic (VE) visualization of the ossicular chain and the temporal bone.

Methods: Fifty patients with suspected lesions of middle ear underwent a high-resolution CT of the temporal bone with VE, seventeen patients were subsequently operated. CT examinations of the temporal bone were carried out using spiral equipment and endoscopic 3D processing was carried out on a separate workstation equipped with a flying through program.