{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T13:38:33Z","timestamp":1784122713438,"version":"3.55.0"},"reference-count":36,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2023,7,12]],"date-time":"2023-07-12T00:00:00Z","timestamp":1689120000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>15q26 deletion is a rare genomic disorder characterized by intrauterine and postnatal growth retardation, microcephaly, intellectual disability, and congenital malformations. Here, we report a 4\u2010month\u2010old female with intrauterine growth retardation, short stature, pulmonary hypertension, atrial septal defect and congenital bowing of long bones of the legs. Chromosomal microarray analysis showed a de novo deletion of approximately 2.1\u2009Mb at 15q26.3 region that does not include <jats:italic>IGF1R<\/jats:italic>. Our analysis of patients documented in the literature and the DECIPHER database with 15q26 deletions distal to <jats:italic>IGF1R<\/jats:italic>, including 10 patients with de novo pure deletions, allowed us to define the smallest region of overlap to 686\u2009kb. This region includes <jats:italic>ALDH1A3<\/jats:italic>, <jats:italic>LRRK1<\/jats:italic>, <jats:italic>CHSY1<\/jats:italic>, <jats:italic>SELENOS<\/jats:italic>, <jats:italic>SNRPA1<\/jats:italic>, and <jats:italic>PCSK6<\/jats:italic>. We propose haploinsufficiency of one or more genes, besides <jats:italic>IGF1R<\/jats:italic>, within this region may contribute to the clinical findings in patients with 15q26.3 deletion.<\/jats:p>","DOI":"10.1002\/ajmg.a.63350","type":"journal-article","created":{"date-parts":[[2023,7,12]],"date-time":"2023-07-12T07:29:02Z","timestamp":1689146942000},"page":"2392-2397","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["15q26.3 deletions distal to <scp><i>IGF1R<\/i><\/scp> cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-8817-3954","authenticated-orcid":false,"given":"Theru A.","family":"Sivakumaran","sequence":"first","affiliation":[{"name":"Division of Pathology and Laboratory Medicine Phoenix Children's Hospital  Phoenix Arizona USA"},{"name":"Department of Child Health University of Arizona College of Medicine\u2010Phoenix  Phoenix Arizona USA"},{"name":"Department of Pathology University of Arizona College of Medicine\u2010Phoenix  Phoenix Arizona USA"},{"name":"Department of Pathology Creighton University School of Medicine  Phoenix Arizona USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theresa A.","family":"Grebe","sequence":"additional","affiliation":[{"name":"Department of Child Health University of Arizona College of Medicine\u2010Phoenix  Phoenix Arizona USA"},{"name":"Division of Genetics and Metabolism Phoenix Children's Hospital  Phoenix Arizona USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,7,12]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000511235"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-021-01121-5"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1530\/EC-17-0158"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-015-0130-y"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.14.9.1146"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1297\/cpe.26.119"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-018-0368-4"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.12.003"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2156-14-44"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms1161"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1947"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.12.002"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-103756"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.10.003"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-019-0675-1"},{"key":"e_1_2_5_17_1","article-title":"Familial short stature associated with terminal microdeletion of 15q26.3: Variable phenotype not involving the IGF\u2010I receptor gene","author":"Lucaccioni L.","year":"2015","journal-title":"54th Annual Meeting of European Society for Pediatric Endocrinology"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.1223"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/ahg.12352"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-021080"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.04.001"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0686-8"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.10.020"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.3325\/cmj.2017.58.231"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2020.09.034"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.09.017"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38566"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32534"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-017-0339-z"},{"key":"e_1_2_5_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/chd.12179"},{"key":"e_1_2_5_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38700"},{"key":"e_1_2_5_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.203"},{"key":"e_1_2_5_33_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2018-02065"},{"key":"e_1_2_5_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.1935"},{"key":"e_1_2_5_35_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-7-4"},{"key":"e_1_2_5_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-022-05275-y"},{"key":"e_1_2_5_37_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.111.960302"}],"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.63350","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T07:46:15Z","timestamp":1692690375000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63350"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,12]]},"references-count":36,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["10.1002\/ajmg.a.63350"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63350","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,12]]},"assertion":[{"value":"2023-03-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-12","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}