{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,17]],"date-time":"2025-11-17T17:22:03Z","timestamp":1763400123793,"version":"3.44.0"},"reference-count":28,"publisher":"BMJ","issue":"12","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,11,21]]},"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:p>\n                  <jats:italic>TCF20<\/jats:italic>-associated neurodevelopmental disorder (TAND) is a rare and phenotypically variable genetic condition. Common features include intellectual disability, neurobehavioural concerns, postnatal tall stature and hypotonia.<\/jats:p>\n               <jats:p>Two unrelated early adolescent males were referred to genetics for assessment of developmental delay. The first male of Caucasian descent had a history of autism spectrum disorder (ASD), mitral valve prolapse and subtle craniofacial dysmorphisms. The second male of Somali descent had a history of intellectual disability, thick corpus callosum and ASD. Whole-exome sequencing revealed a pathogenic variant in <jats:italic>TCF20<\/jats:italic> in both individuals. Further testing revealed that the former individual\u2019s mother was mosaic for the <jats:italic>TCF2<\/jats:italic>0 pathogenic variant.<\/jats:p>\n               <jats:p>We report two individuals with <jats:italic>TCF20<\/jats:italic> pathogenic variants presenting with unique findings, including thick corpus callosum, family history of mosaicism and cardiac anomalies. These examples expand the TAND phenotype, describe associated dysmorphism in a minority group and highlight the importance of rare disease research.<\/jats:p>","DOI":"10.1136\/bcr-2022-248995","type":"journal-article","created":{"date-parts":[[2022,12,7]],"date-time":"2022-12-07T10:30:25Z","timestamp":1670409025000},"page":"e248995","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Diagnosis and clinical presentation of two individuals with a rare <i>TCF20<\/i> pathogenic variant"],"prefix":"10.1136","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9822-3477","authenticated-orcid":false,"given":"Michelle Robyn","family":"Schneeweiss","sequence":"first","affiliation":[{"name":"Faculty of Health Sciences, McMaster University, Hamilton, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Breanne","family":"Dale","sequence":"additional","affiliation":[{"name":"Genetics and Metabolics Clinic, McMaster Children's Hospital, Hamilton, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Resham","family":"Ejaz","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada"},{"name":"Department of Pediatrics, McMaster Children's Hospital, Hamilton, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2022,12,7]]},"reference":[{"key":"2025082709411062000_15.12.e248995.1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0454-9"},{"key":"2025082709411062000_15.12.e248995.2","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-019-0650-x"},{"key":"2025082709411062000_15.12.e248995.3","doi-asserted-by":"publisher","DOI":"10.1038\/nature21062"},{"key":"2025082709411062000_15.12.e248995.4","doi-asserted-by":"crossref","DOI":"10.15252\/embr.201949239","article-title":"TCF20 dysfunction 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