Case report of a novel mutation in the TNC gene in Chinese patients with nonsyndromic hearing loss.

Rationale: Hereditary hearing loss is known to exhibit a significant degree of genetic heterogeneity. Herein, we present a case report of a novel mutation in the tenascin-C (TNC) gene in Chinese patients with nonsyndromic hearing loss (NSHL).

Patient Concerns: This includes a young deaf couple and their 2-year-old baby.

Ensure the accuracy and consistency of biochemical analyzer test results: Chemometrics for instrument and inter-instrument item comparison in Chinese hospital laboratory.

Biochemical analyzers are vital instruments that utilize the principle of photoelectric colorimetry to quantify a specific chemical composition in body fluids. This analysis provides critical data for the diagnosis, treatment, prognosis, and overall health status of various diseases in clinical practice. However, the performance of a biochemical analyzer can vary significantly between different brands or over time within the same brand.

PARD3 gene variation as candidate cause of nonsyndromic cleft palate only.

Nonsyndromic cleft palate only (NSCP) is a common congenital malformation worldwide. In this study, we report a three-generation pedigree with NSCP following the autosomal-dominant pattern. Whole-exome sequencing and Sanger sequencing revealed that only the frameshift variant c.

Multiple time-point assessment of lncRNA shows potential to monitor treatment efficacy in rheumatoid arthritis patients.

This study explored the clinical role of lncRNA  in rheumatoid arthritis (RA) management. Totally, 191 active RA patients were enrolled, and their lncRNA expressions in peripheral blood monoclonal cells were detected. LncRNA expression was downregulated, and it negatively correlated with lesion joints, inflammation and disease activity in RA patients.

Novel mutations of SOX10 gene in Chinese patients with type II Waardenburg syndrome.

Waardenburg Syndrome (WS) is a condition characterized by sensorineural deafness and pigment disturbances of the skin, hair and iris. By using the latest genomics technology, the WS-related gene mutations and corresponding mechanisms have been widely studied and reported. and the high genetic heterogeneity of the disease has also been explained.

Association between genotype and phenotype of virulence gene in Van der Woude syndrome families.

Members from two Van der Woude syndrome (VWS) families were screened to determine the prevalence of interferon regulatory factor 6 (IRF6) as a disease‑causing gene and to analyze the interrelationships between patient genotype and phenotype. The peripheral blood of 24 members from two VWS families and 200 control samples were collected. The family members were interviewed for medical histories and other clinical abnormalities using questionnaires.

Cordblood-Based High-Throughput Screening for Deafness Gene of 646 Newborns in Jinan Area of China.

Objectives: Infants with slight/mild or late-onset hearing impairment might be missed in universal newborn hearing screening (UNHS). We identified the mutation hot spot of common deaf gene in the newborns in Jinan area population by screening the mutation spot with neonate cord blood, in order to make clear whether the neonate cord blood for screening is feasible.

Methods: Six hundred and forty-six newborns were subjected to both UNHS and genetic screening for deafness by using neonate cord blood.

Combination of hearing screening and genetic screening for deafness-susceptibility genes in newborns.

The aim of this study was to determine the clinical significance of the results of screening of newborn hearing and the incidence of deafness-susceptibility genes. One thousand newborn babies in the Handan Center Hospital (Handan, China) underwent screening of hearing and deafness-susceptibility genes. The first screening test was carried out using otoacoustic emissions (OAEs).

Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.

Conclusions: This study demonstrated high prevalence of GJB2, SLC26A4, and mtDNA A1555G mutations in Chinese patients with nonsyndromic hearing loss and discovered eight novel mutations in SLC26A4. Most of these novel mutations were predicted pathogenic variants.

Objectives: Nonsyndromic hearing loss is the most common neurosensory deafness where the majority of patients have highly diversified genetic defects.

Compound heterozygous mutations of SLC26A4 in 4 Chinese families with enlarged vestibular aqueduct.

Objective: Enlarged vestibular aqueduct is the most common inner ear malformation in individuals with sensorineural hearing loss. Mutations in SLC26A4 can cause non-syndromic EVA. To date, more than 170 SLC26A4 mutations have been described.