{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T10:00:24Z","timestamp":1785578424306,"version":"3.56.0"},"reference-count":27,"publisher":"SAGE Publications","issue":"7","license":[{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2026,7,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome (IDOB-FMD) is a rare genetic disorder characterized by moderate to severe intellectual disability, microcephaly, and brain abnormalities such as a thin corpus callosum, cerebellar hypoplasia, and cerebral white matter hypoplasia, often observed on MRI scans. Additional features include obesity and craniofacial dysmorphism. IDOB-FMD is inherited in an autosomal recessive manner, attributed to Trafficking Protein Particle Complex Subunit 9 (TRAPPC9) deficiency, with a prevalence of less than 1 in 1,000,000. This syndrome shares clinical similarities with Prader\u2013Willi syndrome (PWS).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      In our study, we conducted a clinical evaluation of two Tunisian siblings suspected of having Prader\u2013Willi-like syndrome (PWLS) based on their clinical presentation. Whole-exome sequencing (WES) was employed to identify genetic variants associated with the phenotype. Variant interpretation and segregation analysis were performed to ascertain the pathogenicity of the identified variants. WES revealed a homozygous mutation in the\n                      <jats:italic toggle=\"yes\">TRAPPC9<\/jats:italic>\n                      gene in both siblings. The variant was predicted to be pathogenic and segregated with the phenotype within the family. Clinical examination was consistent with PWLS, including intellectual disability, microcephaly, and dysmorphism.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>\n                      Our findings emphasize the importance of genetic testing in patients presenting with PWLS features, highlighting a\n                      <jats:italic toggle=\"yes\">TRAPPC9<\/jats:italic>\n                      mutation that expands the known mutational spectrum. This study, the second investigation of PWLS in Tunisia, reports a pathogenic variant in the\n                      <jats:italic toggle=\"yes\">TRAPPC9<\/jats:italic>\n                      gene underlying the observed phenotype in this family, offering valuable insights into clinical management and genetic counseling. Our identification of this variant not only reveals genetic heterogeneity but also prompts further research to elucidate the genotype-phenotype correlations and molecular mechanisms underlying\n                      <jats:italic toggle=\"yes\">TRAPPC9<\/jats:italic>\n                      -related disorders.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/19450265261468940","type":"journal-article","created":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T12:24:58Z","timestamp":1783513498000},"page":"167-175","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the Phenotypic Spectrum of Trafficking Protein Particle Complex Subunit 9-Related Intellectual Developmental Disorder: Prader\u2013Willi-like Presentation in a Tunisian Family"],"prefix":"10.1177","volume":"30","author":[{"given":"Maha","family":"Ben Jemaa","sequence":"first","affiliation":[{"name":"Human Genetics and Stem Cell Laboratory, Research Institute of Sciences and Engineering, University of Sharjah, Sharjah, United Arab Emirates."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5581-8078","authenticated-orcid":false,"given":"Haifa","family":"El Mabrouk","sequence":"additional","affiliation":[{"name":"Department of Genetics, Laboratory of Human Cytogenetics, Molecular Genetics and Reproduction Biology, Farhat Hached University Hospital, Sousse, Tunisia."},{"name":"Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir, Tunisia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona","family":"Mahfood","sequence":"additional","affiliation":[{"name":"Human Genetics and Stem Cell Laboratory, Research Institute of Sciences and Engineering, University of Sharjah, Sharjah, United Arab Emirates."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichraf","family":"Kraawa","sequence":"additional","affiliation":[{"name":"Laboratory for Childhood Neurological Disorders: Investigation and Management, Tunis Institute of Neurology, Tunisia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aida","family":"Rouissi","sequence":"additional","affiliation":[{"name":"Laboratory for Childhood Neurological Disorders: Investigation and Management, Tunis Institute of Neurology, Tunisia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilhem","family":"Turki","sequence":"additional","affiliation":[{"name":"Laboratory for Childhood Neurological Disorders: Investigation and Management, Tunis Institute of Neurology, Tunisia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moez","family":"Gribaa","sequence":"additional","affiliation":[{"name":"Department of Genetics, Laboratory of Human Cytogenetics, Molecular Genetics and Reproduction Biology, Farhat Hached University Hospital, Sousse, Tunisia."},{"name":"Faculty of Medicine Ibn El Jazzar of Sousse, University of Sousse, Sousse, Tunisia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salma","family":"Najar","sequence":"additional","affiliation":[{"name":"Department of Genetics, Laboratory of Human Cytogenetics, Molecular Genetics and Reproduction Biology, Farhat Hached University Hospital, Sousse, Tunisia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdelaziz","family":"Tlili","sequence":"additional","affiliation":[{"name":"Human Genetics and Stem Cell Laboratory, Research Institute of Sciences and Engineering, University of Sharjah, Sharjah, United Arab Emirates."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorra","family":"Hmida","sequence":"additional","affiliation":[{"name":"Department of Genetics, Laboratory of Human Cytogenetics, Molecular Genetics and Reproduction Biology, Farhat Hached University Hospital, Sousse, Tunisia."},{"name":"Faculty of Medicine Ibn El Jazzar of Sousse, University of Sousse, Sousse, Tunisia."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,7,8]]},"reference":[{"key":"e_1_3_3_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32602"},{"key":"e_1_3_3_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12040557"},{"key":"e_1_3_3_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-021-01007-8"},{"key":"e_1_3_3_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm2999"},{"key":"e_1_3_3_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature08689"},{"key":"e_1_3_3_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.trsl.2020.05.001"},{"key":"e_1_3_3_8_1","doi-asserted-by":"publisher","DOI":"10.2174\/1573396315666190716120925"},{"key":"e_1_3_3_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.0b013e31822bead0"},{"key":"e_1_3_3_10_1","doi-asserted-by":"publisher","DOI":"10.6065\/apem.2016.21.3.126"},{"key":"e_1_3_3_11_1","doi-asserted-by":"publisher","DOI":"10.4161\/fly.19695"},{"key":"e_1_3_3_12_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-3888"},{"key":"e_1_3_3_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2023.03.001"},{"key":"e_1_3_3_14_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.00061"},{"key":"e_1_3_3_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.1.101"},{"key":"e_1_3_3_16_1","doi-asserted-by":"publisher","DOI":"10.7150\/ijbs.78489"},{"key":"e_1_3_3_17_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M501670200"},{"key":"e_1_3_3_18_1","doi-asserted-by":"publisher","DOI":"10.1210\/endrev\/bnab026"},{"key":"e_1_3_3_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2009-10-3-r25"},{"key":"e_1_3_3_20_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1008916"},{"key":"e_1_3_3_21_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_3_3_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.11.009"},{"key":"e_1_3_3_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63100"},{"key":"e_1_3_3_24_1","doi-asserted-by":"publisher","DOI":"10.4238\/2014.March.31.9"},{"key":"e_1_3_3_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2776"},{"key":"e_1_3_3_26_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23094900"},{"key":"e_1_3_3_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/cddis.2013.486"},{"key":"e_1_3_3_28_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.3349"}],"container-title":["Genetic Testing and Molecular Biomarkers"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/19450265261468940","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/19450265261468940","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/19450265261468940","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T09:30:27Z","timestamp":1785576627000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/19450265261468940"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,1]]},"references-count":27,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2026,7,1]]}},"alternative-id":["10.1177\/19450265261468940"],"URL":"https:\/\/doi.org\/10.1177\/19450265261468940","relation":{},"ISSN":["1945-0265","1945-0257"],"issn-type":[{"value":"1945-0265","type":"print"},{"value":"1945-0257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,1]]}}}