{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:21Z","timestamp":1772160081312,"version":"3.50.1"},"reference-count":5,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,3,28]],"date-time":"2025-03-28T00:00:00Z","timestamp":1743120000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    The\n                    <jats:italic>DOCK3<\/jats:italic>\n                    gene (NM_004947.5) is located on chromosome 3p21.2 spanning 53 exons and encodes the dedicator of cytokinesis 3 protein. DOCK3 belongs to the family of guanine nucleotide exchange factors (GEFs) that activate GTPases.\n                    <jats:italic>DOCK3<\/jats:italic>\n                    is expressed almost exclusively in the central nervous system and has been shown to promote axonal outgrowth. Biallelic disruptions of\n                    <jats:italic>DOCK3<\/jats:italic>\n                    are implicated in a neurodevelopmental disorder presenting with intellectual disability, hypotonia and ataxia (OMIM: 618292). We report a 9\u2010year\u2010old female with global developmental delay, moderate intellectual disability, wide\u2010based and ataxic gait, hypotonia, benign nocturnal myoclonus, bifid uvula, moderate obstructive sleep apnea, and alternating esotropia. Prior to enrollment in the Undiagnosed Rare Disease Clinic (URDC), the patient's clinical exome testing was negative. The subsequent enrollment in URDC allowed further research investigations through whole genome sequencing (GS) that identified two compound heterozygous variants in the\n                    <jats:italic>DOCK3<\/jats:italic>\n                    gene, ultimately yielding an unequivocal definitive molecular diagnosis.\n                  <\/jats:p>","DOI":"10.1111\/cge.14741","type":"journal-article","created":{"date-parts":[[2025,3,28]],"date-time":"2025-03-28T03:20:44Z","timestamp":1743132044000},"page":"109-111","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Research\u2010Based Whole Genome Sequencing Identifies Biallelic Loss of Function Variants in\n                    <i>DOCK3<\/i>\n                    Gene Causing\n                    <i>DOCK3<\/i>\n                    \u2010Related Disorder: The End of a Diagnostic Journey for This Family"],"prefix":"10.1111","volume":"108","author":[{"given":"Khurram","family":"Liaqat","sequence":"first","affiliation":[{"name":"Indiana University School of Medicine  Indianapolis Indiana USA"},{"name":"Department of Medical and Molecular Genetics Indiana University School of Medicine  Indianapolis Indiana USA"},{"name":"Undiagnosed Rare Disease Clinic (URDC) Indiana University School of Medicine  Indianapolis Indiana USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kayla","family":"Treat","sequence":"additional","affiliation":[{"name":"Indiana University School of Medicine  Indianapolis Indiana USA"},{"name":"Department of Medical and Molecular Genetics Indiana University School of Medicine  Indianapolis Indiana USA"},{"name":"Undiagnosed Rare Disease Clinic (URDC) Indiana University School of Medicine  Indianapolis Indiana USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lili","family":"Mantcheva","sequence":"additional","affiliation":[{"name":"Indiana University School of Medicine  Indianapolis Indiana USA"},{"name":"Department of Medical and Molecular Genetics Indiana University School of Medicine  Indianapolis Indiana USA"},{"name":"Undiagnosed Rare Disease Clinic (URDC) Indiana University School of Medicine  Indianapolis Indiana USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aaron","family":"McLaughlin","sequence":"additional","affiliation":[{"name":"Indiana University School of Medicine  Indianapolis Indiana USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy","family":"Breman","sequence":"additional","affiliation":[{"name":"Indiana University School of Medicine  Indianapolis Indiana USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Molly","family":"McPheron","sequence":"additional","affiliation":[{"name":"Indiana University School of Medicine  Indianapolis Indiana USA"},{"name":"Department of Medical and Molecular Genetics Indiana University School of Medicine  Indianapolis Indiana USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erin","family":"Conboy","sequence":"additional","affiliation":[{"name":"Indiana University School of Medicine  Indianapolis Indiana USA"},{"name":"Department of Medical and Molecular Genetics Indiana University School of Medicine  Indianapolis Indiana USA"},{"name":"Undiagnosed Rare Disease Clinic (URDC) Indiana University School of Medicine  Indianapolis Indiana USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Vetrini","sequence":"additional","affiliation":[{"name":"Indiana University School of Medicine  Indianapolis Indiana USA"},{"name":"Department of Medical and Molecular Genetics Indiana University School of Medicine  Indianapolis Indiana USA"},{"name":"Undiagnosed Rare Disease Clinic (URDC) Indiana University School of Medicine  Indianapolis Indiana USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,3,28]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.10.733"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12995"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38517"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010019\u20100397\u20102"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes14101940"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14741","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T06:27:28Z","timestamp":1762928848000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14741"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,28]]},"references-count":5,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,7]]}},"alternative-id":["10.1111\/cge.14741"],"URL":"https:\/\/doi.org\/10.1111\/cge.14741","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14741\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14741\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14741\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14741\/v1\/review3","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,28]]},"assertion":[{"value":"2025-02-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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