{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T12:28:58Z","timestamp":1789043338620,"version":"build-2803163510"},"reference-count":28,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T00:00:00Z","timestamp":1770249600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>This study aimed to uncover the genetic variations and their corresponding clinical features in a Chinese family affected by epidermolysis bullosa (EB).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We enrolled a Chinese family clinically diagnosed with EB and conducted whole-exome sequencing on the proband to identify genetic variations. I-TASSER and PyMOL software were used to examine the structural and functional implications of the identified mutant proteins.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The study identified an autosomal-dominant form of epidermolysis bullosa simplex (EBS) in the family, attributed to a novel missense variation c.A527G (D176G) in the\n                      <jats:italic>ITGB4<\/jats:italic>\n                      gene. By bioinformatics analyses, we found that the wild-type D176 forms one hydrogen bond with a distance of 3.1 \u00c5 from F201, one hydrogen bond with a distance of 2.7 \u00c5 from K177, and two hydrogen bonds with a distance of 3.2 \u00c5 from Y304; however, the mutant G176 only forms one hydrogen bond with F201 at a distance of 3.2 \u00c5.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This study confirms the dominant mode of inheritance of the missense\n                      <jats:italic>ITGB4<\/jats:italic>\n                      mutation observed in EB. The novel missense variation c.A527G (D176G) in\n                      <jats:italic>ITGB4<\/jats:italic>\n                      involves a transition from a polar to non-polar amino acid and a decrease in intermolecular hydrogen bonding, which was associated with EB development.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fmed.2025.1726208","type":"journal-article","created":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T10:52:43Z","timestamp":1770288763000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["A novel variant c.A527G in ITGB4 leads to autosomal dominant epidermolysis bullosa in China"],"prefix":"10.3389","volume":"12","author":[{"given":"Juyi","family":"Li","sequence":"first","affiliation":[{"name":"Department of Pharmacy, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan","place":["Hubei, 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China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hengfei","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Infectious Diseases, Hubei Provincial Hospital of Traditional Chinese Medicine, Wuhan","place":["Hubei, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aiping","family":"Deng","sequence":"additional","affiliation":[{"name":"Department of Pharmacy, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan","place":["Hubei, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiufang","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pain, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan","place":["Hubei, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Cai","sequence":"additional","affiliation":[{"name":"Department of Gastrointestinal Surgery, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan","place":["Hubei, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jifa","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Scientific Research, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan","place":["Hubei, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiu","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Oncology, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan","place":["Hubei, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Dermatology, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science 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