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Data about relevant variants in specific populations and typical initial manifestations may facilitate early diagnosis and treatment. We here describe the genetic landscape of ATTRv amyloidosis in Israel.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Genetic and clinical data of\n                      <jats:italic>TTR<\/jats:italic>\n                      variant carriers and ATTRv amyloidosis patients were collected from a national referral clinic and other subspecialty clinics in Israel. Genotype\u2013phenotype correlations of the detected variants were detailed. In addition, two large Israeli exome sequence (ES) databases were screened for\n                      <jats:italic>TTR<\/jats:italic>\n                      variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Seven heterozygous disease\u2010causing variants in\n                      <jats:italic>TTR<\/jats:italic>\n                      were identified among 95 adults (52 males, 50.7%). The Ser77Tyr variant was found in 68 (71.6%) subjects of Jewish Yemenite ancestry. Val122Ile was found in 9 (9.4%) subjects and was the only variant detected in individuals of Arab ethnicity. Other variants were Thr60Ala, Val30Met, Val32Ala, Ala81Val, and Glu89Val. Thirty\u2010five individuals were ATTRv amyloidosis patients (25 males, 71.4%), diagnosed at a mean age of 62.5\u2009\u00b1\u20096.7\u2009years, and 23 (63.7%) were due to Ser77Tyr. Initial symptoms were mostly related to carpal tunnel syndrome, and the sensitivity of scintigraphy was low for Ser77Tyr but high for Thr60Ala and Val32Ala variants.\n                      <jats:italic>TTR<\/jats:italic>\n                      pathogenic variants were detected in 14 of approximately 36,600 subjects who underwent ES, including Val122Ile in 9 subjects of Arab ethnicity.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Most ATTRv amyloidosis cases in Israel are attributable to the Ser77Tyr variant. However, other variants also contribute to disease occurrence, and testing is warranted in clinically suspected patients.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ene.70057","type":"journal-article","created":{"date-parts":[[2025,1,29]],"date-time":"2025-01-29T07:50:00Z","timestamp":1738137000000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics"],"prefix":"10.1111","volume":"32","author":[{"given":"Amir","family":"Dori","sequence":"first","affiliation":[{"name":"Department of Neurology Sheba Medical Center  Ramat Gan Israel"},{"name":"Faculty of Medical &amp; Health Sciences Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Odelia","family":"Chorin","sequence":"additional","affiliation":[{"name":"Faculty of Medical &amp; Health Sciences Tel Aviv 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