{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T18:04:03Z","timestamp":1790964243321,"version":"4.1.0"},"reference-count":3,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,12,19]],"date-time":"2024-12-19T00:00:00Z","timestamp":1734566400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2024,12,19]],"date-time":"2024-12-19T00:00:00Z","timestamp":1734566400000},"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":[[2025,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Ataxia with Vitamin E Deficiency (AVED) is a rare autosomal recessive genetic disorder, that caused by pathogenic variants in the TTPA gene, which encodes the alpha\u2010tocopherol transfer protein. This study investigates eight patients from three consanguineous Iranian families, using exome sequencing (ES) and Sanger sequencing to identify novel pathogenic variants in the TTPA gene. Two variants were identified: c.219T&gt;A (p.Tyr73*) and c.205\u20101G&gt;C. the first one (c.219T&gt;A) related to potentially founder effects within regions of homozygosity. Clinical outcomes varied among patients based on vitamin E therapy initiation, with early treatment preventing severe neurological impairment. These findings improve knowledge of TTPA variants, supporting targeted genetic\u2010based therapy. This study emphasizes the importance of genetic screening in consanguineous communities for the early detection and management of Mendelian diseases, with additional implications for managing rare genetic disorders generally.<\/jats:p>","DOI":"10.1111\/cge.14658","type":"journal-article","created":{"date-parts":[[2024,12,19]],"date-time":"2024-12-19T23:25:07Z","timestamp":1734650707000},"page":"366-368","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and\n                    <i>In Silico<\/i>\n                    Analysis"],"prefix":"10.1111","volume":"107","author":[{"given":"Sajjad","family":"Biglari","sequence":"first","affiliation":[{"name":"Department of Genetics and Molecular Biology, School of Medicine Isfahan University of Medical Sciences  Isfahan Iran"},{"name":"Center for Applied Genomics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pooneh","family":"Nikuei","sequence":"additional","affiliation":[{"name":"Molecular Medicine Research Center, Hormozgan Health Institute Hormozgan University of Medical Sciences  Bandar Abbas Iran"},{"name":"Dr.Nikuei Genetic Center  Bandar Abbas Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atefeh","family":"Mir","sequence":"additional","affiliation":[{"name":"Department of Genetics School of Medicine, Zahedan University of Medical Sciences  Zahedan Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hassan","family":"Vahidnezhad","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leila","family":"Youssefian","sequence":"additional","affiliation":[{"name":"Department of Pathology, Cytogenetics Laboratory City of Hope National Medical Center  Irwindale California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atefeh Sohanforooshan","family":"Moghaddam","sequence":"additional","affiliation":[{"name":"Department of Genetics, Faculty of Biological Science North Tehran Branch, Islamic Azad University  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Amin","family":"Tabatabaiefar","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Biology, School of Medicine Isfahan University of Medical Sciences  Isfahan Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amir Hossein","family":"Saeidian","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erfan","family":"Khorram","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Biology, School of Medicine Isfahan University of Medical Sciences  Isfahan Iran"},{"name":"Applied Physiology Research Center, Cardiovascular Research Institute Isfahan University of Medical Sciences  Isfahan Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Ali Farazi","family":"Fard","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zahra","family":"Farbood","sequence":"additional","affiliation":[{"name":"Comprehensive Medical Genetic Center Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad","family":"Shahrooei","sequence":"additional","affiliation":[{"name":"Dr. Shahrooei Laboratory  Tehran Iran"},{"name":"Clinical and Diagnostic Immunology KU Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamid Reza Khorram","family":"Khorshid","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Science  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emran","family":"Esmaeilzadeh","sequence":"additional","affiliation":[{"name":"Fetal Health Research Center Hope Generation Foundation  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,12,19]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-004-0246-z"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2435"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2024.101225"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14658","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.14658","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14658","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T06:15:55Z","timestamp":1775801755000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14658"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,19]]},"references-count":3,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["10.1111\/cge.14658"],"URL":"https:\/\/doi.org\/10.1111\/cge.14658","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,19]]},"assertion":[{"value":"2024-10-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-11-13","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-19","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}