{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T22:11:16Z","timestamp":1789423876631,"version":"build-2803163510"},"reference-count":29,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T00:00:00Z","timestamp":1768867200000},"content-version":"vor","delay-in-days":19,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Study Objective<\/jats:title>\n                    <jats:p>We reported a rare case of 1p36 deletion syndrome diagnosed using whole\u2010exome sequencing (WES) in a Tunisian neonate, and to highlight the utility of WES in detecting structural variants, particularly in resource\u2010limited settings.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Clinical and genetic investigations were conducted on a female neonate presenting with a severe polymalformative syndrome. WES was performed to detect potential genetic abnormalities, followed by validation through fluorescence in\u00a0situ hybridization (FISH). Variant annotation and classification were done in accordance with ACMG guidelines.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      WES identified a heterozygous interstitial deletion in the 1p36 region, spanning 11.64\u2009Mb and affecting 155 coding genes, including key genes such as\n                      <jats:italic>MMP23B, GABRD, SKI, PRDM16, KCNAB2, RERE, UBE4B,<\/jats:italic>\n                      and\n                      <jats:italic>CASZ1.<\/jats:italic>\n                      The deletion was classified as pathogenic, and FISH analysis confirmed its presence. Clinically, the patient exhibited intrauterine growth restriction, neonatal epilepsy, craniofacial dysmorphia, congenital heart defect, and agenesis of the corpus callosum.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This is the first reported case in Tunisia of a 1p36 deletion identified via short\u2010read WES. The findings support the expanding role of WES in structural variant detection and underscore its diagnostic value, especially in settings with limited access to chromosomal microarray or genome sequencing technologies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/bdr2.70017","type":"journal-article","created":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T09:35:37Z","timestamp":1768901737000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["First Detection of 1p36 Deletion by Whole\u2010Exome Sequencing in a Tunisian Patient"],"prefix":"10.1002","volume":"118","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8074-3052","authenticated-orcid":false,"given":"Nesrine","family":"Kerkeni","sequence":"first","affiliation":[{"name":"Human Genetics Laboratory, LR99ES10, Faculty of Medicine of Tunis University of Tunis El Manar  Tunis Tunisia"},{"name":"Genetics Department Charles Nicolle Hospital  Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maher","family":"Kharrat","sequence":"additional","affiliation":[{"name":"Human Genetics Laboratory, LR99ES10, Faculty of Medicine of Tunis University of Tunis El Manar  Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilia","family":"Kraoua","sequence":"additional","affiliation":[{"name":"Human Genetics Laboratory, LR99ES10, Faculty of Medicine of Tunis University of Tunis El Manar  Tunis Tunisia"},{"name":"Genetics Department Charles Nicolle Hospital  Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahlem","family":"Achour","sequence":"additional","affiliation":[{"name":"Human Genetics Laboratory, LR99ES10, Faculty of Medicine of Tunis University of Tunis El Manar  Tunis Tunisia"},{"name":"Genetics Department Charles Nicolle Hospital  Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faouzi","family":"Maazoul","sequence":"additional","affiliation":[{"name":"Human Genetics Laboratory, LR99ES10, Faculty of Medicine of Tunis University of Tunis El Manar  Tunis Tunisia"},{"name":"Genetics Department Charles Nicolle Hospital  Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ridha","family":"Mrad","sequence":"additional","affiliation":[{"name":"Human Genetics Laboratory, LR99ES10, Faculty of Medicine of Tunis University of Tunis El Manar  Tunis Tunisia"},{"name":"Genetics Department Charles Nicolle Hospital  Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mediha","family":"Trabelsi","sequence":"additional","affiliation":[{"name":"Human Genetics Laboratory, LR99ES10, Faculty of Medicine of Tunis University of Tunis El Manar  Tunis Tunisia"},{"name":"Genetics Department Charles Nicolle Hospital  Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,1,20]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528\u20101167.2007.01424.x"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007\u20100929"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20100041\u20101732477"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.1363"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev\u2010genom\u2010102822\u2010100509"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30154"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bty304"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.2.121"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399\u20100004.2003.00126.x"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/375179"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S65698"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/978\u20101\u20104939\u20100992\u20106_20"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bty897"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"e_1_2_12_17_1","first-page":"A130","article-title":"Small Terminal Deletion of Chromosome 1 Short Arm in an Infant With Multiple Anomalies: Confirmation by in Situ Hybridization of Probe p1\u201079","volume":"41","author":"Magenis R. 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