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Mitochondrial translation deficiency constitutes a growing cause of combined oxidative phosphorylation deficiency and overall causes a set of clinically heterogeneous multi\u2010systemic diseases. We present here the sixth individual with combined oxidative phosphorylation deficiency\u20109 (COXPD9) secondary to a likely pathogenic homozygous <jats:italic>MRPL3<\/jats:italic> variant c.571A\u2009&gt;\u2009C; p.(Thr191Pro). <jats:italic>MRPL3<\/jats:italic> encodes a large mitochondrial ribosome subunit protein, impairing the mitochondrial translation and resulting in multisystem disease. Similar to previously reported individuals, this reported female proband presented with psychomotor retardation, sensorineural hearing loss, hypertrophic cardiomyopathy, failure to thrive, and lactic acidosis. Further, she has additional, previously unreported, features including Leigh syndrome, cataracts, hypotonia, scoliosis, myopathy, exercise intolerance, childhood\u2010onset cardiomyopathy, and microcephaly. This subject is the oldest reported individual with COXPD9. This report also summarizes the clinical and molecular data of the previously reported individuals with COXPD9 to describe the full phenotypic spectrum.<\/jats:p>","DOI":"10.1002\/ajmg.a.62344","type":"journal-article","created":{"date-parts":[[2021,5,19]],"date-time":"2021-05-19T11:44:52Z","timestamp":1621424692000},"page":"2519-2525","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["<scp>COXPD9<\/scp> in an individual from Puerto Rico and literature review"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6433-0311","authenticated-orcid":false,"given":"Hind","family":"Alsharhan","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Division of Human Genetics, Section of Biochemical Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatrics, Faculty of Medicine Kuwait University  Kuwait City Kuwait"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Colleen","family":"Muraresku","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Section of Biochemical Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6238-8109","authenticated-orcid":false,"given":"Rebecca D.","family":"Ganetzky","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Section of Biochemical Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatrics, Perelman School of Medicine University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,5,19]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-015-0440-6"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3031"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz093"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2016_13"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101375"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1080\/15384101.2015.1053672"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2020.104880"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-015-0444-2"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21562"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.02.012"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-biochem-060815-014343"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13895"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy374"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11011-017-0074-5"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2013.06.004"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M100727200"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M106510200"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005679"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bty897"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.07.005"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00441-016-2456-0"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu747"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20282"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcn.2012.08.013"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.053116"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2013.04.014"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.214"},{"key":"e_1_2_5_30_1","volume-title":"GeneReviews\u00ae","author":"Thorburn D. 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