{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T22:12:50Z","timestamp":1789683170995,"version":"4.0.1"},"reference-count":40,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T00:00:00Z","timestamp":1764460800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T00:00:00Z","timestamp":1764460800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Investigation"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Importance<\/jats:title>\n                    <jats:p>\n                      Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of dystroglycan.\n                      <jats:italic>CRPPA<\/jats:italic>\n                      is a gene associated with DGPs. Understanding the genetic basis, genotype\u2013phenotype correlations, and population\u2010specific mutations is crucial for accurate diagnosis and genetic counseling.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      To investigate\n                      <jats:italic>CRPPA<\/jats:italic>\n                      mutations in Chinese pediatric patients with DGPs, analyze genotype\u2013phenotype correlations, and determine whether specific deletions represent founder mutations in this population.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Clinical and genetic data of pediatric patients with\n                      <jats:italic>CRPPA<\/jats:italic>\n                      \u2010related DGPs between June 2006 and December 2023 from Peking University First Hospital were collected and analyzed. Muscle biopsy specimens from four patients were examined using immunohistochemistry, immunofluorescence, and electron microscopy. Haplotype analysis was performed to investigate the potential founder mutation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Among the 16 patients studied, phenotypes ranged from severe muscle\u2010eye\u2010brain disease to milder limb\u2010girdle muscular dystrophy. Twenty\u2010one pathogenic variants were identified, including five novel variants. A recurrent exon 6\u20139 deletion emerged as the second most frequent variant (25.0%, 4\/16), with haplotype analysis supporting a founder mutation in Chinese patients. At follow\u2010up, most patients remained non\u2010ambulatory, and one patient died of respiratory failure.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>\n                      This study broadens the\n                      <jats:italic>CRPPA<\/jats:italic>\n                      mutational spectrum and identifies a founder mutation of exon 6\u20139 deletion in Chinese patients. These findings have important implications for population\u2010specific screening, diagnosis, and genetic counseling.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ped4.70029","type":"journal-article","created":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T12:40:22Z","timestamp":1764506422000},"page":"25-37","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["<i>CRPPA<\/i>\n                    exon 6\u20139 deletion as a founder mutation in Chinese patients with dystroglycanopathy"],"prefix":"10.1002","volume":"10","author":[{"given":"Jihang","family":"Luo","sequence":"first","affiliation":[{"name":"Children's Medical Center Peking University First Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yidan","family":"Liu","sequence":"additional","affiliation":[{"name":"Children's Medical Center Peking University First Hospital  Beijing 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