Novel recessive PDZD7 biallelic mutations associated with hereditary hearing loss in a Chinese pedigree.

•We established a methodological system for the genetic diagnosis system of PDZD7 gene related to ARNSHL.•We found two novel variants in the PDZD7 gene, which are classified as likely Pathogenic variant by ACMP/AMP guideline.•The two novel variants in the PDZD7 gene enrich the mutational profile of Chinese hereditary deafness.•This study lays the foundation for prenatal diagnosis, preimplantation diagnosis, and genetic coulseling for the disease.