[Genotype and phenotype characteristics of DFNB67 hearing loss patients with LHFPL5 variants]

The current study aimed to analyze the genotype and phenotype characteristics of families with hearing loss caused by LHFPL5 gene variants. The clinical and molecular genetic data of two Han Chinese families with heredity hearing loss who visited Tianjin Medical University General Hospital and Chinese PLA General Hospital from May to November 2023 were retrospectively analyzed. The probands from two families are a 35-year-old female deaf-mute patient and a 5-year-old boy with hearing loss. Whole exome sequencing was used to identified candidate pathogenic genes in probands, and variant loci were verified by Sanger sequencing among family members. Additionally, the phenotypic characteristics were analyzed by hearing and vestibular assessment. The clinical phenotypes of patients from two families were bilateral congenital total deafness and rare progressive severe to profound sensorineural hearing loss. Homozygous variant LHFPL5 (p.Tyr67Cys) and compound heterozygous variants LHFPL5 (p.Tyr67Cys, p.Ser88del) were identified. This study extends the LHFPL5 variant spectrum and enriches the knowledge of auditory phenotypes, providing an important basis for accurate diagnosis and intervention of hearing loss caused by LHFPL5 variants.