{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T10:29:01Z","timestamp":1793701741782,"version":"4.5.1"},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T00:00:00Z","timestamp":1788393600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T00:00:00Z","timestamp":1788393600000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2026,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>ABCA13<\/jats:italic>\n                    encodes ATP\u2010binding cassette subfamily A member 13, one of the largest members of the ABC transporter family. Rare\n                    <jats:italic>ABCA13<\/jats:italic>\n                    variants have been reported in neuropsychiatric and neurodevelopmental phenotypes, including schizophrenia, bipolar disorder, autism spectrum disorder, intellectual disability, and developmental delay; however, the mode of inheritance remains uncertain, and most published cases have focused on heterozygous variants in the context of a possible dominant or susceptibility model. We report a 5\u2010year\u2010old boy with neurodevelopmental delay, skeletal foot deformities, nonspecific dysmorphic features, convergent strabismus, and behavioral abnormalities. Initial genome sequencing analysis was nondiagnostic. Reanalysis after 6 months identified two rare predicted loss\u2010of\u2010function variants in\n                    <jats:italic>ABCA13<\/jats:italic>\n                    in trans: c.2510del, p.(Leu837TyrfsTer21), a frameshift variant, and c.12064C&gt;T, p.(Arg4022Ter), a nonsense variant previously reported in a patient with unexplained intellectual disability. The identification of compound heterozygous predicted loss\u2010of\u2010function variants supports the possibility that biallelic disruption of\n                    <jats:italic>ABCA13<\/jats:italic>\n                    may contribute to neurodevelopmental disease, whereas previously reported heterozygous variants may represent incompletely penetrant risk alleles, susceptibility factors, or candidate findings rather than fully penetrant dominant causes. This case expands the emerging clinical and genetic spectrum associated with\n                    <jats:italic>ABCA13<\/jats:italic>\n                    and supports further evaluation of a recessive model in patients with intellectual disability and neurodevelopmental delay.\n                  <\/jats:p>","DOI":"10.1111\/cge.70245","type":"journal-article","created":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T01:26:41Z","timestamp":1788485201000},"page":"775-779","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Biallelic\n                    <scp>\n                      <i>ABCA13<\/i>\n                    <\/scp>\n                    Loss\u2010of\u2010Function Variants in a Child With Neurodevelopmental Delay: A Case Report"],"prefix":"10.1111","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6805-066X","authenticated-orcid":false,"given":"Maya","family":"Atanasoska","sequence":"first","affiliation":[{"name":"GMDL \u201cCellGenetics\u201d  Sofia Bulgaria"},{"name":"Laboratory of Reproductive OMICs Technologies, Institute of Biology and Immunology of Reproduction Bulgarian Academy of Sciences  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lubomir","family":"Balabanski","sequence":"additional","affiliation":[{"name":"GMDL \u201cCellGenetics\u201d  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Avdjieva\u2010Tzavella","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics University Pediatric Hospital, Medical University\u2010Sofia  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4528-2190","authenticated-orcid":false,"given":"Tsvetina","family":"Veleva","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics University Pediatric Hospital, Medical University\u2010Sofia  Sofia Bulgaria"},{"name":"Medical University  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6717-1918","authenticated-orcid":false,"given":"Slavyana Yaneva","family":"Staykova","sequence":"additional","affiliation":[{"name":"GMDL \u201cCellGenetics\u201d  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0969-9335","authenticated-orcid":false,"given":"Irena","family":"Bradinova","sequence":"additional","affiliation":[{"name":"GMDL \u201cCellGenetics\u201d  Sofia Bulgaria"},{"name":"National Genetic Laboratory, UHOG \u201cMaichin Dom\u201d  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Draga","family":"Toncheva","sequence":"additional","affiliation":[{"name":"Bulgarian Academy of Sciences  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radoslava","family":"Vazharova","sequence":"additional","affiliation":[{"name":"GMDL \u201cCellGenetics\u201d  Sofia Bulgaria"},{"name":"Faculty of Medicine, Department of Biology, Medical Genetics and Microbiology Sofia University St Kliment Ohridski  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,3]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature21062"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(14)61705-0"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0114-6"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000069852"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2006.01.011"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1042\/BST20250138"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.RA120.015997"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.11.003"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms222413189"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1080\/15622975.2016.1245442"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000529018"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2011.2"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1159\/000534123"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525-019-0081-z"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1126\/sciadv.1600558"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-020-78530-9"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12020310"}],"container-title":["Clinical 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