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Multiple genes have been associated with OAVS and common molecular pathways, such as retinoic acid and the PAX-SIX-EYA-DACH (PSED) network, are being implicated in the disease pathophysiology. Biallelic homozygous nonsense or hypomorphic missense mutations in<jats:italic>PAX1<\/jats:italic>cause otofaciocervical syndrome type 2 (OTFCS2), a similar but more severe multi-system disorder that can be accompanied by severe combined immunodeficiency due to thymic aplasia. Here we have identified a multi-generational family with mild features of OAVS segregating a heterozygous frameshift in<jats:italic>PAX1<\/jats:italic>. The four base duplication is expected to result in nonsense-mediated decay, and therefore cause a null allele. While there was full penetrance of the variant, expressivity of facial and ear features were variable. Our findings indicate there can be monoallelic and biallelic disorders associated with<jats:italic>PAX1<\/jats:italic>, and further implicate the PSED network in OAVS.<\/jats:p>","DOI":"10.1038\/s41431-022-01154-2","type":"journal-article","created":{"date-parts":[[2022,7,25]],"date-time":"2022-07-25T10:03:01Z","timestamp":1658743381000},"page":"1178-1181","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome"],"prefix":"10.1038","volume":"30","author":[{"given":"Shannon","family":"Carter","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4164-020X","authenticated-orcid":false,"given":"Bridget J.","family":"Fellows","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kate","family":"Gibson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6899-9322","authenticated-orcid":false,"given":"Louise S.","family":"Bicknell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,7,25]]},"reference":[{"key":"1154_CR1","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1038\/nature02083","volume":"426","author":"X Li","year":"2003","unstructured":"Li X, Oghi KA, Zhang J, Krones A, Bush KT, Glass CK, et al. 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Informed consent was provided for the study, with separate consent obtained for the use of photographs.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}