{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T22:23:28Z","timestamp":1789683808097,"version":"4.0.1"},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,9,28]],"date-time":"2021-09-28T00:00:00Z","timestamp":1632787200000},"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":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Ataxia telangiectasia (AT) is a rare autosomal recessive multisystemic disorder. It usually presents in toddler years with progressive ataxia and oculomotor apraxia, or less commonly, in the late\u2010first or early\u2010second decade of life with mixed movement disorders. Biallelic mutations in ataxia telangiectasia mutated gene (\n                    <jats:italic>ATM<\/jats:italic>\n                    ) cause AT phenotype, a disease not well documented in Saudi Arabia, a highly consanguineous society. We studied several Saudi AT patients, identified\n                    <jats:italic>ATM<\/jats:italic>\n                    variants, and investigated associated clinical features. We included 17 patients from 12 consanguineous families. All patients had comprehensive clinical and radiological assessment, and most were examined through whole\u2010exome sequencing (WES). Selected individuals were analyzed using various genetic approaches. We identified five different\n                    <jats:italic>ATM<\/jats:italic>\n                    variants in our patients: three previously reported mutations, and two novel variants. Nearly all patients had classical AT presentation except for two patients with a milder phenotype. Among the three known variants, a deletion causing truncation (c.381delA resulting in p.(Val128Ter)) was identified in 13 patients. Two patients harboured the other two truncating variants, (c.9001_9002delAG resulting in p.Ser3001Phefs*6) and (c.9066delA resulting in p.Glu3023Alafs*10) and two patients had novel compound heterozygous variants (NM_000051.3:Paternal Allele:c.8762C\u00a0&gt;\u00a0G;p.Thr2921Arg and Maternal Allele:c.1057T\u00a0&gt;\u00a0C;p.Cys353Arg). We speculate that c.381delA is a founder mutation in our population. This study provides a genotype\u2013phenotype relationship in a previously unstudied consanguineous population. Our findings contribute to improve local clinical care, therapy, and genetic counseling.\n                  <\/jats:p>","DOI":"10.1111\/ahg.12445","type":"journal-article","created":{"date-parts":[[2021,9,28]],"date-time":"2021-09-28T08:45:47Z","timestamp":1632818747000},"page":"34-44","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Genetics of ataxia telangiectasia in a highly consanguineous population"],"prefix":"10.1111","volume":"86","author":[{"given":"Mohammed A.","family":"Al\u2010Muhaizea","sequence":"first","affiliation":[{"name":"Department of Neurosciences King Faisal Specialist Hospital and Research Centre  Riyadh Kingdom of Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanouf","family":"Aldeeb","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics Center for Genomic Medicine King Faisal Specialist Hospital and Research Centre  Riyadh Kingdom of Saudi Arabia"},{"name":"Department of Genetics King Faisal Specialist Hospital and Research Centre  Riyadh Kingdom of Saudi Arabia"},{"name":"College of Pharmacy King Saud University  Riyadh Kingdom of Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rawan","family":"Almass","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Centre  Riyadh Kingdom of Saudi Arabia"},{"name":"Department of Medical Genetics King Faisal Specialist Hospital and Research Centre  Riyadh Kingdom of Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hadeel","family":"Jaber","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Centre  Riyadh Kingdom of Saudi Arabia"},{"name":"College of Pharmacy King Saud University  Riyadh Kingdom of Saudi 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Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hesham","family":"Aldhalaan","sequence":"additional","affiliation":[{"name":"Department of Neurosciences King Faisal Specialist Hospital and Research Centre  Riyadh Kingdom of Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maysoon","family":"Alsagob","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Centre  Riyadh Kingdom of Saudi Arabia"},{"name":"King Abdulaziz City for Science and Technology  Riyadh Kingdom of Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albandary","family":"Al\u2010Bakheet","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics Center for Genomic Medicine King Faisal Specialist Hospital and Research Centre  Riyadh Kingdom of Saudi Arabia"},{"name":"Department of Genetics King Faisal Specialist Hospital and Research Centre  Riyadh Kingdom of Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mazhor","family":"Aldosary","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics Center for Genomic Medicine King Faisal Specialist Hospital and Research Centre  Riyadh Kingdom of Saudi Arabia"},{"name":"Department of Genetics King Faisal Specialist Hospital and Research Centre  Riyadh Kingdom of Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hadeel","family":"Alkofide","sequence":"additional","affiliation":[{"name":"College of Pharmacy King Saud University  Riyadh Kingdom of Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha M.","family":"Alrasheed","sequence":"additional","affiliation":[{"name":"College of Pharmacy King Saud University  Riyadh Kingdom of Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6485-8768","authenticated-orcid":false,"given":"Dilek","family":"Colak","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, Epidemiology and Scientific Computing King Faisal Specialist Hospital and Research Centre  Riyadh Kingdom of Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8912-7507","authenticated-orcid":false,"given":"Namik","family":"Kaya","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics Center for Genomic Medicine King Faisal Specialist Hospital and Research Centre  Riyadh Kingdom of Saudi Arabia"},{"name":"Department of Genetics King Faisal Specialist Hospital and Research Centre  Riyadh Kingdom of Saudi 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