{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T09:02:55Z","timestamp":1788339775227,"version":"build-2803163510"},"reference-count":41,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,2,3]],"date-time":"2022-02-03T00:00:00Z","timestamp":1643846400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Intellectual disability is a form of neurodevelopmental disorders that begin in childhood and is characterized by substantial intellectual difficulties as well as difficulties in conceptual, social, and practical areas of living. Several genetic and nongenetic factors contribute to its development; however, its most severe forms are generally attributed to single\u2010gene defects. High\u2010throughput technologies and data sharing contributed to the diagnosis of hundreds of single\u2010gene intellectual disability subtypes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We applied exome sequencing to identify potential variants causing syndromic intellectual disability in six Sudanese patients from four unrelated families. Data sharing through the Varsome portal corroborated the diagnosis of one of these patients and a Tunisian patient investigated through exome sequencing. Sanger sequencing validated the identified variants and their segregation with the phenotypes in the five studied families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Result<\/jats:title><jats:p>We identified three pathogenic\/likely pathogenic variants in <jats:italic>CCDC82<\/jats:italic>, <jats:italic>ADAT3<\/jats:italic>, and <jats:italic>HUWE1<\/jats:italic> and variants of uncertain significance in <jats:italic>HERC2<\/jats:italic> and <jats:italic>ATP2B3<\/jats:italic>. The patients with the <jats:italic>CCDC82<\/jats:italic> variants had microcephaly and spasticity, two signs absent in the two previously reported families with <jats:italic>CCDC82<\/jats:italic>\u2010related intellectual disability.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In conclusion, we report new patients with pathogenic mutations in the genes <jats:italic>CCDC82<\/jats:italic>, <jats:italic>ADAT3<\/jats:italic>, and <jats:italic>HUWE1<\/jats:italic>. We also highlight the possibility of extending the <jats:italic>CCDC82<\/jats:italic>\u2010linked phenotype to include spastic paraplegia and microcephaly.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ahg.12460","type":"journal-article","created":{"date-parts":[[2022,2,4]],"date-time":"2022-02-04T07:34:54Z","timestamp":1643960094000},"page":"181-194","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing"],"prefix":"10.1111","volume":"86","author":[{"given":"Ashraf","family":"Yahia","sequence":"first","affiliation":[{"name":"Department of Biochemistry, Faculty of Medicine University of Khartoum  Khartoum Sudan"},{"name":"Department of Biochemistry, Faculty of Medicine National University  Khartoum Sudan"},{"name":"Institut du Cerveau \u2010 Paris Brain Institute ICM, Sorbonne Universit\u00e9, INSERM, CNRS, APHP  Paris France"},{"name":"Ecole Pratique des Hautes Etudes, EPHE PSL Research University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ikhlas Ben","family":"Ayed","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular and Cellular Screening Processes (LPCMC), LR15CBS07 Center of Biotechnology of Sfax, University of Sfax  Sfax Tunisia"},{"name":"Medical Genetic Department Hedi Chaker Hospital  Sfax Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahlam A.","family":"Hamed","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine University of Khartoum  Khartoum Sudan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inaam N.","family":"Mohammed","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine University of Khartoum  Khartoum Sudan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha A.","family":"Elseed","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine University of Khartoum  Khartoum Sudan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aisha M.","family":"Bakhiet","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Faculty of Medicine University of Khartoum  Khartoum Sudan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lena","family":"Guillot\u2010Noel","sequence":"additional","affiliation":[{"name":"Institut du Cerveau \u2010 Paris Brain Institute ICM, Sorbonne Universit\u00e9, INSERM, CNRS, APHP  Paris France"},{"name":"Ecole Pratique des Hautes Etudes, EPHE PSL Research University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima","family":"Abozar","sequence":"additional","affiliation":[{"name":"Faculty of Medicine University of Khartoum  Khartoum Sudan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rawaa","family":"Adil","sequence":"additional","affiliation":[{"name":"Faculty of Medicine University of Khartoum  Khartoum Sudan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Emad","sequence":"additional","affiliation":[{"name":"Faculty of Medicine University of Khartoum  Khartoum Sudan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rayan","family":"Abubaker","sequence":"additional","affiliation":[{"name":"Institute of Endemic Diseases University of Khartoum  Khartoum Sudan"},{"name":"National University Biomedical Research Institute (NUBRI) National University  Khartoum Sudan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mhammed Alhassan","family":"Musallam","sequence":"additional","affiliation":[{"name":"Faculty of Medicine University of Khartoum  Khartoum Sudan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isra Z. 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