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In this study, a Chinese family with prelingual sensorineural hearing loss was investigated. The affected individuals showed moderately severe hearing loss at all frequencies. Using target genome enrichment and high-throughput sequencing, the homozygous variant c.2372del; p.(Ser791fs) was identified in<jats:italic>PDZD7<\/jats:italic>. This variant lies in exon 15 of<jats:italic>PDZD7<\/jats:italic>and results in a frame shift followed by an early stop codon. It is classified as pathogenic according to the ACMG\/AMP guidelines and ClinGen specifications. Our study expands the pathogenic variant spectrum of<jats:italic>PDZD7<\/jats:italic>and strengthens the clinical importance of this gene in patients with moderately severe hearing loss.<\/jats:p>","DOI":"10.1186\/s12920-022-01289-7","type":"journal-article","created":{"date-parts":[[2022,6,17]],"date-time":"2022-06-17T09:10:20Z","timestamp":1655457020000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss"],"prefix":"10.1186","volume":"15","author":[{"given":"Qiang","family":"Du","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qin","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaodong","family":"Gu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinchao","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weitao","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luo","family":"Guo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huawei","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,6,17]]},"reference":[{"issue":"9462","key":"1289_CR1","doi-asserted-by":"publisher","first-page":"879","DOI":"10.1016\/S0140-6736(05)71047-3","volume":"365","author":"RJ Smith","year":"2005","unstructured":"Smith RJ, Bale JF Jr, White KR. 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This study was approved by the Eye, Ear, Nose and Throat Hospital affiliated with Fudan University Review Board of the Office of Research Compliance through protocol 2017044. Written informed consent was obtained from adult participants involved in the study. Written informed consent was obtained from parents\/guardians of all minor participants involved in the study. This study was approved by the ethics committee of the Institutional Review Board of the Eye, Ear, Nose and Throat Hospital affiliated with Fudan University (Shanghai, China).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"135"}}