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Here, we report a novel frameshift variant c.187_191dupGCCGA, p.D64Efs*56 identified in an individual with clinical presentation of COXPD53 with developmental regression and autistic features. The variant c.187_191dupGCCGA, p.D64Efs*56 represents the most N\u2010terminal part of C2orf69. Notable clinical features of COXPD53of the proband include developmental delay, developmental regression, seizures, microcephaly, and hypertonia. Structural brain defects of cerebral atrophy, cerebellar atrophy, hypomyelination, and thin corpus callosum were also observed. While we observe strong phenotypic overlap among affected individuals with <jats:italic>C2orf69<\/jats:italic> variants, developmental regression and autistic features have not been previously described in individuals with COXPD53. Together, this case expands the genetic and clinical phenotypic spectrum of <jats:italic>C2orf69<\/jats:italic>\u2010associated COXPD53.<\/jats:p>","DOI":"10.1002\/ajmg.a.63310","type":"journal-article","created":{"date-parts":[[2023,6,20]],"date-time":"2023-06-20T09:19:07Z","timestamp":1687252747000},"page":"2446-2450","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A novel biallelic frameshift variant in <i>C2orf69<\/i> causing developmental regression, seizures, microcephaly, autistic features, and hypertonia"],"prefix":"10.1002","volume":"191","author":[{"given":"Elizabeth A.","family":"Werren","sequence":"first","affiliation":[{"name":"Department of Human Genetics University of Michigan Medical School  Ann Arbor Michigan USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Varunvenkat M.","family":"Srinivasan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Sanjay Gandhi Postgraduate Institute of Medical Sciences  Lucknow Uttar Pradesh India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vykuntaraju K.","family":"Gowda","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Indira Gandhi Institute of Child Health  Bangalore India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akanksha","family":"Pandey","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Sanjay Gandhi Postgraduate Institute of Medical Sciences  Lucknow Uttar Pradesh India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saurabh","family":"Vaish","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Sanjay Gandhi Postgraduate Institute of Medical Sciences  Lucknow Uttar Pradesh India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anusha Raj","family":"Kabbur","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Indira Gandhi Institute of Child Health  Bangalore India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bevinahalli N.","family":"Nandeesh","sequence":"additional","affiliation":[{"name":"Department of Neuropathology National Institute of Mental Health and Neurosciences  Bangalore India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0699-3704","authenticated-orcid":false,"given":"Anshika","family":"Srivastava","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Sanjay Gandhi Postgraduate Institute of Medical Sciences  Lucknow Uttar Pradesh India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,6,20]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI143078"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-015-9831-y"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22450"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2018.03.004"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-019-0660-y"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2014.7184"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.06.009"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-015-9823-y"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63310","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T07:46:04Z","timestamp":1692690364000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63310"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,20]]},"references-count":9,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["10.1002\/ajmg.a.63310"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63310","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,20]]},"assertion":[{"value":"2023-01-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-20","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}