Nonsyndromic Hearing Loss Latest Advances

A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss.

Journal: American journal of medical genetics. Part A

Published: August 11, 2025

Whole Genome Sequencing Improves the Identification of Pathogenic and Novel Variation in Nonsyndromic Hearing Loss.

Journal: Human mutation

Published: June 23, 2025

A novel splicing variant in TECTA associated with prelingual autosomal dominant nonsyndromic hearing loss via dominant-negative effect.

Journal: Human molecular genetics

Published: April 02, 2025

A Novel Frameshift Variant c.1023_1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss.

Journal: Journal of clinical laboratory analysis

Published: January 31, 2025

Functional Correlation of Two Novel Nonsense POU4F3 Mutations Causing Late-Onset Progressive Nonsyndromic Hearing Loss in DFNA15 Families.

Journal: Molecular genetics & genomic medicine

Published: December 27, 2024

Identification of novel CDH23 heterozygous variants causing autosomal recessive nonsyndromic hearing loss.

Journal: Genes & genomics

Published: October 23, 2024

Fluctuating hearing loss associated with a novel heterozygous variant in the TNC gene related to nonsyndromic hearing loss.

Journal: Brazilian journal of otorhinolaryngology

Published: October 22, 2024

Case report: A novel nonsense mutation in the MARVELD2 gene causes nonsyndromic hearing loss in a China family.

Journal: Frontiers in genetics

Published: October 08, 2024

Biallelic variants of SEMA3F are associated with nonsyndromic hearing loss.

Journal: Molecules and cells

Published: September 24, 2024

Identification and Functional Characterization of a Novel PRPS1 Variant in X-Linked Nonsyndromic Hearing Loss: Insights From Zebrafish and Cellular Models.

Journal: Human mutation

Published: September 14, 2024

Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss.

Journal: The journal of international advanced otology

Published: August 19, 2024

Targeted Next-Generation Sequencing Analysis Reveals a Novel Genetic Variant in MYO6 Gene in an Indian Family with Postlingual Nonsyndromic Hearing Loss.

Journal: Genetic testing and molecular biomarkers

Published: July 17, 2024