{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T22:28:52Z","timestamp":1773786532591,"version":"3.50.1"},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,12,25]],"date-time":"2025-12-25T00:00:00Z","timestamp":1766620800000},"content-version":"vor","delay-in-days":358,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003970","name":"Isfahan University of Medical Sciences","doi-asserted-by":"publisher","award":["394950"],"award-info":[{"award-number":["394950"]}],"id":[{"id":"10.13039\/501100003970","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genetics Research"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Cockayne syndrome (CS) is a rare, autosomal\u2010recessive, multisystem disorder characterized by microcephaly, failure to thrive, photosensitivity, leukodystrophy, muscle contracture, and intellectual disability. It is caused by deleterious variant in the\n                      <jats:italic>ERCC6<\/jats:italic>\n                      and\n                      <jats:italic>ERCC8<\/jats:italic>\n                      genes, which are involved in the transcription\u2010coupled nucleotide excision repair system. According to severity and age of onset, CS is categorized into four types: I, II, III, and cerebrooculofacioskeletal syndrome (COFS). However, some researchers consider COFS to be a distinct disease from CS, while others describe COFS as a severe form of CS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Whole\u2010exome sequencing (WES) and Sanger sequencing were used to identify potential pathogenic causative variant.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      WES data analysis revealed a nonsense variant (NM_000124: c.3862C&gt;T, p.R1288X) in the\n                      <jats:italic>ERCC6<\/jats:italic>\n                      gene, which was co\u2010segregated using Sanger sequencing. Although this variant has been reported previously in association with both CS and COFS separately, this study\u2019s patient manifested intermediate symptoms.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This study\u2019s findings expand the clinical spectrum of the variant (NM_000124: c.3862C&gt;T, p.R1288X) and provide more supporting evidence that CS and COFS are phenotypic spectrums rather than different clinical conditions in which genetic and epigenetic factors probably play a pivotal role in the severity of symptoms.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1155\/genr\/7396691","type":"journal-article","created":{"date-parts":[[2025,12,25]],"date-time":"2025-12-25T23:38:03Z","timestamp":1766705883000},"source":"Crossref","is-referenced-by-count":0,"title":["A Truncating Variant in the\n                    <i>ERCC6<\/i>\n             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