{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T01:06:21Z","timestamp":1791939981812,"version":"4.3.4"},"reference-count":43,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"10","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":["JASN"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:sec>\n                    <jats:title>Key Points<\/jats:title>\n                    <jats:p>\n                      <jats:list list-type=\"bullet\">\n                        <jats:list-item>\n                          <jats:p>\n                            Single-molecule real-time sequencing with the PacMUC1 script resolved exact\n                            <jats:italic toggle=\"yes\">MUC1<\/jats:italic>\n                            variable tandem repeat structure and full allelic variation.\n                          <\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>\n                            In 300 individuals, the protocol identified 215 distinct\n                            <jats:italic toggle=\"yes\">MUC1<\/jats:italic>\n                            tandem repeat alleles with 80 repeat units and nine frameshift mutation types.\n                          <\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Probe extension assay identified 90% of families with frameshift mutations, detection of frameshifted mucin-1 aided genetically unresolved cases.<\/jats:p>\n                        <\/jats:list-item>\n                      <\/jats:list>\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      ADTKD-\n                      <jats:italic toggle=\"yes\">MUC1<\/jats:italic>\n                      is caused by frameshift mutations in the\n                      <jats:italic toggle=\"yes\">MUC1<\/jats:italic>\n                      gene, producing a frameshifted neoprotein (MUC1fs) toxic to kidney cells. The gene's variable number of tandem repeats (VNTR), with approximately 80% guanine\/cytosine content, has made it largely inaccessible to standard short-read sequencing, leaving the reference sequence and natural variation poorly defined and complicating mutation detection.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Using single-molecule real-time (SMRT) sequencing, we characterized\n                      <jats:italic toggle=\"yes\">MUC1<\/jats:italic>\n                      VNTR in 300 individuals, including 279 from 143 families suspected of having ADTKD-\n                      <jats:italic toggle=\"yes\">MUC1<\/jats:italic>\n                      , assessing VNTR length, repeat structure, and frameshift mutations. Results were compared with the Clinical Laboratory Improvement Amendments\u2013approved probe-extension assay, detecting the prevalent 59dupC mutation, and with MUC1fs immunohistochemistry, which detects the pathogenic protein independent of the underlying genomic change.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified 215 unique VNTR alleles composed of 80 distinct repeat units, 46 (58%) of which were novel, and nine distinct frameshift mutations present on 52 mutated alleles. Overall,\n                      <jats:italic toggle=\"yes\">MUC1<\/jats:italic>\n                      frameshift mutations were identified in 71 of 143 families (50%) with suspected ADTKD-\n                      <jats:italic toggle=\"yes\">MUC1<\/jats:italic>\n                      , comprising 135 affected individuals (48%). The SMRT assay outperformed the probe-extension assay by identifying frameshift mutations in two families with previously inconclusive results and in eight additional families whose mutations were undetectable by the probe-extension design. When successful, SMRT assay showed 100% concordance with probe-extension assay at the family level and 98% at the individual level, with discordance attributable to allelic dropout inherent to both long-range PCR amplification and long-read sequencing. Analysis of the mutational spectrum confirmed 59dupC as the most prevalent mutation, affecting approximately 90% of families, while the other eight mutation types occurred at most twice.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The SMRT assay outperformed the Clinical Laboratory Improvement Amendments-approved probe-extension assay by detecting essentially all VNTR-associated frameshift mutations. The probe-extension assay identified approximately 90% of affected families. MUC1fs immunohistochemistry added diagnostic value in genetically unresolved cases by detecting the pathogenic protein independent of the underlying mutation.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1681\/asn.0000001103","type":"journal-article","created":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T16:01:03Z","timestamp":1775836863000},"page":"2248-2261","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":5,"title":["Single-Molecule Real-Time Sequencing for MUC1 Variable Number of Tandem Repeat Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis"],"prefix":"10.1681","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4640-1646","authenticated-orcid":false,"given":"Alena","family":"Vrback\u00e1","sequence":"first","affiliation":[{"name":"Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles 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