{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T02:12:59Z","timestamp":1788487979129,"version":"build-2803163510"},"reference-count":18,"publisher":"Wiley","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"],"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},"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","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":[{"issue":"7642","key":"e_1_2_13_2_1","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1038\/nature21062","article-title":"Prevalence and Architecture of de Novo Mutations in Developmental Disorders","volume":"542","author":"Deciphering Developmental Disorders Study","year":"2017","journal-title":"Nature"},{"issue":"9975","key":"e_1_2_13_3_1","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1016\/S0140-6736(14)61705-0","article-title":"Genetic Diagnosis of Developmental Disorders in the DDD Study: A Scalable Analysis of Genome\u2010Wide Research Data","volume":"385","author":"Wright C. F.","year":"2015","journal-title":"Lancet"},{"issue":"5","key":"e_1_2_13_4_1","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1038\/s41431-018-0114-6","article-title":"Periodic Reanalysis of Whole\u2010Genome Sequencing Data Enhances the Diagnostic Advantage Over Standard Clinical Genetic Testing","volume":"26","author":"Costain G.","year":"2018","journal-title":"European Journal of Human Genetics"},{"issue":"2","key":"e_1_2_13_5_1","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1159\/000069852","article-title":"The Human ATP Binding Cassette Gene ABCA13, Located on Chromosome 7p12.3, Encodes a 5058 Amino Acid Protein With an Extracellular Domain Encoded in Part by a 4.8\u2010Kb Conserved Exon","volume":"98","author":"Prades C.","year":"2002","journal-title":"Cytogenetic and Genome Research"},{"issue":"5","key":"e_1_2_13_6_1","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1016\/j.bbadis.2006.01.011","article-title":"ABC A\u2010Subfamily Transporters: Structure, Function and Disease","volume":"1762","author":"Kaminski W. E.","year":"2006","journal-title":"Biochimica et Biophysica Acta"},{"issue":"5","key":"e_1_2_13_7_1","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1042\/BST20250138","article-title":"Lipid Transport Mechanisms in Human ABCA Family Transporters: A Structural Perspective","volume":"54","author":"Dolai S.","year":"2026","journal-title":"Biochemical Society Transactions"},{"key":"e_1_2_13_8_1","doi-asserted-by":"crossref","DOI":"10.1074\/jbc.RA120.015997","article-title":"ABCA13 Dysfunction Associated With Psychiatric Disorders Causes Impaired Cholesterol Trafficking","volume":"296","author":"Nakato M.","year":"2021","journal-title":"Journal of Biological Chemistry"},{"issue":"6","key":"e_1_2_13_9_1","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1016\/j.ajhg.2009.11.003","article-title":"A Cytogenetic Abnormality and Rare Coding Variants Identify ABCA13 as a Candidate Gene in Schizophrenia, Bipolar Disorder, and Depression","volume":"85","author":"Knight H. M.","year":"2009","journal-title":"American Journal of Human Genetics"},{"issue":"24","key":"e_1_2_13_10_1","doi-asserted-by":"crossref","DOI":"10.3390\/ijms222413189","article-title":"Involvement of Rare Mutations of SCN9A, DPP4, ABCA13, and SYT14 in Schizophrenia and Bipolar Disorder","volume":"22","author":"Chen C. H.","year":"2021","journal-title":"International Journal of Molecular Sciences"},{"issue":"7","key":"e_1_2_13_11_1","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1080\/15622975.2016.1245442","article-title":"Association Between the Variability of the ABCA13 Gene and the Risk of Major Depressive Disorder and Schizophrenia in the Han Chinese Population","volume":"18","author":"Chen J.","year":"2017","journal-title":"World Journal of Biological Psychiatry"},{"issue":"3","key":"e_1_2_13_12_1","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1159\/000529018","article-title":"Clinical and Genetic Characteristics of Patients With Unexplained Intellectual Disability\/Developmental Delay Without Epilepsy","volume":"14","author":"Gerik\u2010Celebi H. B.","year":"2023","journal-title":"Molecular Syndromology"},{"issue":"8","key":"e_1_2_13_13_1","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1038\/mp.2011.2","article-title":"Investigation of Rare Non\u2010Synonymous Variants at ABCA13 in Schizophrenia and Bipolar Disorder","volume":"16","author":"Dwyer S.","year":"2011","journal-title":"Molecular Psychiatry"},{"issue":"1","key":"e_1_2_13_14_1","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1159\/000534123","article-title":"Association of ABCA13 Gene Variants With Autism Spectrum Disorder and Other Neuropsychiatric Disorders","volume":"15","author":"Gerik\u2010Celebi H. B.","year":"2024","journal-title":"Molecular Syndromology"},{"issue":"7809","key":"e_1_2_13_15_1","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The Mutational Constraint Spectrum Quantified From Variation in 141\u2009456 Humans","volume":"581","author":"Karczewski K. J.","year":"2020","journal-title":"Nature"},{"key":"e_1_2_13_16_1","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1038\/s41525-019-0081-z","article-title":"Gene Discovery Informatics Toolkit Defines Candidate Genes for Unexplained Infertility and Prenatal or Infantile Mortality","volume":"4","author":"Dawes R.","year":"2019","journal-title":"NPJ Genomic Medicine"},{"issue":"9","key":"e_1_2_13_17_1","doi-asserted-by":"crossref","DOI":"10.1126\/sciadv.1600558","article-title":"Single\u2010Neuron and Genetic Correlates of Autistic Behavior in Macaque","volume":"2","author":"Yoshida K.","year":"2016","journal-title":"Science Advances"},{"issue":"1","key":"e_1_2_13_18_1","doi-asserted-by":"crossref","first-page":"21498","DOI":"10.1038\/s41598-020-78530-9","article-title":"ATP\u2010Binding Cassette Transporter 13 mRNA Expression Level in Schizophrenia Patients","volume":"10","author":"Qian L.","year":"2020","journal-title":"Scientific Reports"},{"issue":"2","key":"e_1_2_13_19_1","doi-asserted-by":"crossref","DOI":"10.3390\/genes12020310","article-title":"Rare Recurrent Variants in Noncoding Regions Impact Attention\u2010Deficit Hyperactivity Disorder (ADHD) Gene Networks in Children of Both African American and European American Ancestry","volume":"12","author":"Liu Y.","year":"2021","journal-title":"Genes"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70245","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.70245","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70245","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T01:26:48Z","timestamp":1788485208000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.70245"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,3]]},"references-count":18,"alternative-id":["10.1111\/cge.70245"],"URL":"https:\/\/doi.org\/10.1111\/cge.70245","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,3]]},"assertion":[{"value":"2026-07-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-29","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-03","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"cge.70245"}}