biostudies-literatureChen Athe National Key Basic Research and Development Programthe Hunan Provincial Key Research and Development Programthe National Key Research and Development Programthe Hunan Provincial Natural Science Foundationthe National Natural Science Foundation129-138https://www.ebi.ac.uk/biostudies/studies/S-EPMC10930475biostudies-literatureUnknown47(1)Branchio-oto syndrome (BOS)/branchio-oto-renal syndrome (BORS) is a kind of autosomal dominant heterogeneous disorder. These diseases are mainly characterized by hearing impairment and abnormal phenotype of ears, accompanied by renal malformation and branchial cleft anomalies including cyst or fistula, with an incidence of 1/40 000 in human population. Otic anormalies are one of the most obvious clinical manifestations of BOS/BORS, including deformities of external, middle, inner ears and hearing loss with conductive, sensorineural or mix, ranging from mild to profound loss. Temporal bone imaging could assist in the diagnosis of middle ear and inner ear malformations for clinicians. Multiple methods including direct sequencing combined with next generation sequencing (NGS), multiplex ligatZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesGenetic research progress in branchio<b>-</b>oto syndrome/ branchio<b>-</b>oto<b>-</b>renal syndrome.PMC109304752014CB5417022020SK21062020YFC200520481771023, 82071065 and 821012332019JJ50938Chen AFeng YLing JfalseGenetic research progress in branchio<b>-</b>oto syndrome/ branchio<b>-</b>oto<b>-</b>renal syndrome.Branchio-oto syndrome (BOS)/branchio-oto-renal syndrome (BORS) is a kind of autosomal dominant heterogeneous disorder. These diseases are mainly characterized by hearing impairment and abnormal phenotype of ears, accompanied by renal malformation and branchial cleft anomalies including cyst or fistula, with an incidence of 1/40 000 in human population. Otic anormalies are one of the most obvious clinical manifestations of BOS/BORS, including deformities of external, middle, inner ears and hearing loss with conductive, sensorineural or mix, ranging from mild to profound loss. Temporal bone imaging could assist in the diagnosis of middle ear and inner ear malformations for clinicians. Multiple methods including direct sequencing combined with next generation sequencing (NGS), multiplex ligat2022-01-01T00:00:00Z2022 Jan2025-04-04T19:15:32.292Z2025-04-04T19:15:32.292ZS-EPMC109304753554537310.11817/j.issn.1672-7347.2022.210251