{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T00:22:57Z","timestamp":1783556577892,"version":"3.55.0"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,12,27]],"date-time":"2022-12-27T00:00:00Z","timestamp":1672099200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U01HG009599"],"award-info":[{"award-number":["U01HG009599"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>TRAPPC9<\/jats:italic> loss\u2010of\u2010function biallelic variants are associated with an autosomal recessive intellectual disability syndrome (Online Mendelian Inheritance of Man no. 613192), also characterized by microcephaly, hypertelorism, obesity, growth delay, and behavioral differences. Here, we describe an 8\u2010year\u2010old Hispanic female with neurodevelopmental disorder, partial epilepsy, microcephaly, bilateral cleft lip and alveolus, growth delay, and dysmorphic features. She had abnormal myelination, mega cisterna magna, and colpocephaly on brain magnetic resonance imaging (MRI). Microarray showed a single ~146\u2009Mb region of homozygosity (ROH) encompassing all of Chromosome 8, consistent with uniparental isodisomy (UPD). Exome sequencing performed in\u2010house did not identify single nucleotide variants to explain her phenotype. Algorithms developed in\u2010house and further evaluation of BAM files revealed a homozygous deletion overlapping Exon 2 in <jats:italic>TRAPPC9<\/jats:italic> within the ROH. Subsequent del\/dup analyses with exon\u2010level oligo array confirmed a likely pathogenic deletion in <jats:italic>TRAPPC9<\/jats:italic> (NM_031466.5): arr[GRCh37] 8q24.3(141460661_141461780)x0. Our case highlights the implications of downstream analyses from UPD\/ROH given the increased risk for AR conditions, the strengths of combining orthologous molecular methods to establish a diagnosis and further delineates the <jats:italic>TRAPPC9<\/jats:italic>\u2010related phenotype in an individual of Hispanic ancestry.<\/jats:p>","DOI":"10.1002\/ajmg.a.63100","type":"journal-article","created":{"date-parts":[[2022,12,27]],"date-time":"2022-12-27T22:54:11Z","timestamp":1672181651000},"page":"1077-1082","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["<scp><i>TRAPPC9<\/i><\/scp>\u2010related neurodevelopmental disorder: Report of a homozygous deletion in <scp><i>TRAPPC9<\/i><\/scp> due to paternal uniparental isodisomy"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3011-440X","authenticated-orcid":false,"given":"Monica","family":"Penon\u2010Portmann","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of California San Francisco  San Francisco California USA"},{"name":"Division of Genetic Medicine, Department of Pediatrics University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ugur","family":"Hodoglugil","sequence":"additional","affiliation":[{"name":"Genomic Medicine Laboratory University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wiita","family":"Arun P","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiffany","family":"Yip","sequence":"additional","affiliation":[{"name":"Institute for Human Genetics University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7053-2449","authenticated-orcid":false,"given":"Anne","family":"Slavotinek","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of California San Francisco  San Francisco California USA"},{"name":"Division of Human Genetics, Department of Pediatrics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica L.","family":"Tenney","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,12,27]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32602"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.98"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12040557"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.08.007"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.trsl.2020.05.001"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw1237"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37649"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.00061"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.14.7531"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.6.2642"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.00972"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1008916"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.79"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61450"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.11.009"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.10.027"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-017-0018-x"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.11.007"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2021.12.012"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525-021-00241-5"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.153"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.136"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1211"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1610"},{"issue":"11","key":"e_1_2_7_26_1","first-page":"1115","article-title":"Diagnosis 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