{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T18:29:55Z","timestamp":1770748195083,"version":"3.49.0"},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,2,9]],"date-time":"2026-02-09T00:00:00Z","timestamp":1770595200000},"content-version":"vor","delay-in-days":39,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"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":["Case Reports in Genetics"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    Desbuquois dysplasia Type 1 (DBQD1) is an extremely rare autosomal recessive skeletal dysplasia characterized by severe short stature, joint laxity, distinct facial dysmorphism, and advanced carpotarsal ossification. Here, we report the first Thai patient diagnosed with classical lethal DBQD1. A 38\u2010week male infant presented with multiple dysmorphic features, micromelia, joint dislocations, narrow thorax, and respiratory insufficiency leading to death at seven months of age. Radiographic findings revealed hallmark features, including a \u201cSwedish key\u201d appearance of the proximal femur and characteristic hand and foot anomalies. Whole exome sequencing identified compound heterozygous missense variants of c.505G\u2009&gt;\u2009\n                    <jats:italic>A<\/jats:italic>\n                    (p.Asp169Asn) and c.1028G\u2009&gt;\u2009\n                    <jats:italic>T<\/jats:italic>\n                    (p.Gly343Val) in the\n                    <jats:italic>CANT1<\/jats:italic>\n                    gene. The 3D structural modeling revealed that both variants reside in conserved regions, with predicted effects on calcium binding and protein folding, resulting in impaired enzymatic function and proteoglycan synthesis. Genetic counseling was provided to the family, and prenatal or preimplantation genetic diagnosis was discussed as an option for future pregnancies. Our report expands the mutational spectrum of the\n                    <jats:italic>CANT1<\/jats:italic>\n                    gene, contributing to a better understanding of DBQD1\u2019s clinical and molecular presentation, particularly in Southeast Asian populations.\n                  <\/jats:p>","DOI":"10.1155\/crig\/9550632","type":"journal-article","created":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T07:26:14Z","timestamp":1770708374000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous\n                    <i>CANT1<\/i>\n                    Mutations: Expanding the Molecular Spectrum"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-6169-6180","authenticated-orcid":false,"given":"Supitcha","family":"Thamissarakul","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-3577-8703","authenticated-orcid":false,"given":"Teeraphorn","family":"Boonswang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9349-2088","authenticated-orcid":false,"given":"Sethapong","family":"Lertsakulbunlue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-4879-208X","authenticated-orcid":false,"given":"Siriluk","family":"Khumsui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2968-5467","authenticated-orcid":false,"given":"Boonchai","family":"Boonyawat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,2,9]]},"reference":[{"key":"e_1_2_14_1_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63132"},{"key":"e_1_2_14_2_2","first-page":"573","article-title":"Nanisme Chondrodystrophique Avec Ossification Anarchique et Polymalformations Chez Deux Soeurs","volume":"23","author":"Desbuquois G.","year":"1966","journal-title":"Archives Fran\u00e7aises de Pediatrie"},{"key":"e_1_2_14_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22104"},{"key":"e_1_2_14_4_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms25179700"},{"key":"e_1_2_14_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_14_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkae413"},{"key":"e_1_2_14_7_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.m604413200"},{"key":"e_1_2_14_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2018.11.002"},{"key":"e_1_2_14_9_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01492-8"},{"key":"e_1_2_14_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/s002470000358"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/9550632","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crig\/9550632","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/9550632","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T07:26:15Z","timestamp":1770708375000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crig\/9550632"}},"subtitle":[],"editor":[{"given":"Richa","family":"Sharma","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/crig\/9550632"],"URL":"https:\/\/doi.org\/10.1155\/crig\/9550632","archive":["Portico"],"relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"value":"2090-6544","type":"print"},{"value":"2090-6552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2025-05-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-10","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-09","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"9550632"}}