{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T13:50:19Z","timestamp":1776433819455,"version":"3.51.2"},"reference-count":42,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T00:00:00Z","timestamp":1759190400000},"content-version":"vor","delay-in-days":272,"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\/501100002842","name":"Chiang Mai University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002842","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010731","name":"Faculty of Medicine, Chiang Mai University","doi-asserted-by":"publisher","award":["76-2565"],"award-info":[{"award-number":["76-2565"]}],"id":[{"id":"10.13039\/501100010731","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["International Journal of Genomics"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:p>\n                    Epidermolysis bullosa (EB) is a genetically heterogeneous skin fragility disorder. Some subtypes also involve other organs, including the pulmonary, gastrointestinal, and renal systems. One severe form, junctional epidermolysis bullosa (JEB), is characterized by cleavage within the skin layers. The rarest and most lethal spectrum of this disorder includes pyloric atresia (PA), known as JEB\u2010PA. The number of reported cases in Thailand is limited. Using trio whole exome sequencing, we identified a Thai newborn with lethal JEB\u2010PA caused by novel null compound heterozygous variants in\n                    <jats:italic>ITGB4<\/jats:italic>\n                    . The patient carries a known nonsense variant (c.2533C&gt;T) and a novel frameshift indel variant (c.1614delT) in\n                    <jats:italic>ITGB4<\/jats:italic>\n                    , inherited from her parents. Both are null variants that result in a premature termination codon (PTC). A comprehensive review of existing literature was conducted to gather information on disease\u2010causing variants and genotype\u2013phenotype correlations in JEB\u2010PA. We summarized 50 previously reported JEB\u2010PA cases, detailing disease severity and\n                    <jats:italic>ITGB4<\/jats:italic>\n                    variants. We found that nonsense and frameshift indels were predominant in lethal cases (32\/62 alleles), whereas missense variants were more common in nonlethal forms (18\/38 alleles). Pathogenic variants were most frequently located in the Fibronectin II\u2013like domain (FnIII) and cytoplasmic domain (CP) for null variants and in the von Willebrand factor Type A (VWFA) domain for missense variants. We emphasize the importance of genetic testing in these heterogeneous skin disorders. Molecular results reveal the disorder\u2019s diagnosis, provide a precise prognosis, and guide the genetic counseling process for the family. Moreover, understanding pathomolecular mechanisms can lead to potential future treatments.\n                  <\/jats:p>","DOI":"10.1155\/ijog\/2680052","type":"journal-article","created":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T14:34:46Z","timestamp":1759242886000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Compound Heterozygous Null Variants in\n                    <i>ITGB4<\/i>\n                    Gene Causing Severe Phenotype of Junctional Epidermolysis Bullosa With Pyloric Atresia in Thai Newborn: Genotype\u2013Phenotype Correlation From a Case Report and Review of the Literature"],"prefix":"10.1155","volume":"2025","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4992-5296","authenticated-orcid":false,"given":"Jeerawan","family":"Klangjorhor","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7203-5067","authenticated-orcid":false,"given":"Mallika","family":"Pomrop","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5392-9062","authenticated-orcid":false,"given":"Patcharawadee","family":"Thongkumkoon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-0564-569X","authenticated-orcid":false,"given":"Nonthanan","family":"Moonsan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-7741-120X","authenticated-orcid":false,"given":"Ratchadaporn","family":"Khiaomai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3595-8003","authenticated-orcid":false,"given":"Arnat","family":"Pasena","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1025-2124","authenticated-orcid":false,"given":"Pathacha","family":"Suksakit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0023-3627","authenticated-orcid":false,"given":"Chulabhorn","family":"Pruksachatkun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-9280-9126","authenticated-orcid":false,"given":"Maliwan","family":"Tengsujaritkul","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,9,30]]},"reference":[{"key":"e_1_2_13_1_2","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.18921"},{"key":"e_1_2_13_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.abd.2020.05.001"},{"key":"e_1_2_13_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2014.01.903"},{"key":"e_1_2_13_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2008.08977.x"},{"key":"e_1_2_13_5_2","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2015.5236"},{"key":"e_1_2_13_6_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.847150"},{"key":"e_1_2_13_7_2","doi-asserted-by":"publisher","DOI":"10.17352\/2455-5479.000190"},{"key":"e_1_2_13_8_2","volume-title":"FastQC: A Quality Control Tool for High Throughput Sequence Data","author":"Andrews S.","year":"2010"},{"key":"e_1_2_13_9_2","doi-asserted-by":"publisher","DOI":"10.14806\/ej.17.1.200"},{"key":"e_1_2_13_10_2","unstructured":"LiH. Aligning Sequence Reads Clone Sequences and Assembly Contigs With BWA-MEM 2013 https:\/\/arxiv.org\/abs\/13033997."},{"key":"e_1_2_13_11_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0031-1285877"},{"key":"e_1_2_13_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0695-229"},{"key":"e_1_2_13_13_2","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12296240"},{"key":"e_1_2_13_14_2","first-page":"157","article-title":"Epidermolysis Bullosa With Pyloric Atresia: Novel Mutations in the Beta4 Integrin Gene (ITGB4)","volume":"152","author":"Pulkkinen L.","year":"1998","journal-title":"American Journal of Pathology"},{"key":"e_1_2_13_15_2","doi-asserted-by":"publisher","DOI":"10.1086\/302116"},{"key":"e_1_2_13_16_2","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200105000-00003"},{"key":"e_1_2_13_17_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0625.2003.00052.x"},{"key":"e_1_2_13_18_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.0906-6705.2004.00107.x"},{"key":"e_1_2_13_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/uog.1911"},{"key":"e_1_2_13_20_2","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-0484"},{"key":"e_1_2_13_21_2","doi-asserted-by":"publisher","DOI":"10.1111\/exd.12938"},{"key":"e_1_2_13_22_2","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.16290"},{"key":"e_1_2_13_23_2","first-page":"823","article-title":"Genomic Organization of the Integrin Beta 4 Gene (ITGB4): A Homozygous Splice-Site Mutation in a Patient With Junctional Epidermolysis Bullosa Associated With Pyloric Atresia","volume":"76","author":"Pulkkinen L.","year":"1997","journal-title":"Laboratory Investigation"},{"key":"e_1_2_13_24_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.2001.04038.x"},{"key":"e_1_2_13_25_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2004.06206.x"},{"key":"e_1_2_13_26_2","first-page":"385","article-title":"Pyloric Atresia-Junctional Epidermolysis Bullosa Syndrome Showing Novel c.4505-4508insACTC Mutations in Integrin b4 Gene (ITGB4)","volume":"57","author":"Mutlu M.","year":"2015","journal-title":"Turkish Journal of Pediatrics"},{"key":"e_1_2_13_27_2","doi-asserted-by":"publisher","DOI":"10.1080\/15513815.2017.1324545"},{"key":"e_1_2_13_28_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.641977"},{"key":"e_1_2_13_29_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.1998.02515.x"},{"key":"e_1_2_13_30_2","first-page":"935","article-title":"Compound Heterozygosity for Missense (L156P) and Nonsense (R554X) Mutations in the Beta4 Integrin Gene (ITGB4) Underlies Mild, Nonlethal Phenotype of Epidermolysis Bullosa With Pyloric Atresia","volume":"152","author":"Pulkkinen L.","year":"1998","journal-title":"American Journal of Pathology"},{"key":"e_1_2_13_31_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.11.2097"},{"key":"e_1_2_13_32_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2007.03.001"},{"key":"e_1_2_13_33_2","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-1381"},{"key":"e_1_2_13_34_2","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.14236"},{"key":"e_1_2_13_35_2","doi-asserted-by":"publisher","DOI":"10.1111\/pde.14668"},{"key":"e_1_2_13_36_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10620-022-07410-1"},{"key":"e_1_2_13_37_2","doi-asserted-by":"publisher","DOI":"10.1111\/ced.14223"},{"key":"e_1_2_13_38_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genet-111212-133424"},{"key":"e_1_2_13_39_2","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.e02-05-0259"},{"key":"e_1_2_13_40_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V77.11.2305.2305"},{"key":"e_1_2_13_41_2","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.16104"},{"key":"e_1_2_13_42_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62462"}],"container-title":["International Journal of Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/ijog\/2680052","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/ijog\/2680052","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/ijog\/2680052","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T02:45:33Z","timestamp":1773024333000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/ijog\/2680052"}},"subtitle":[],"editor":[{"given":"Santasree","family":"Banerjee","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":42,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1155\/ijog\/2680052"],"URL":"https:\/\/doi.org\/10.1155\/ijog\/2680052","archive":["Portico"],"relation":{},"ISSN":["2314-436X","2314-4378"],"issn-type":[{"value":"2314-436X","type":"print"},{"value":"2314-4378","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"2025-02-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-06","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-30","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"2680052"}}