{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T03:52:15Z","timestamp":1791604335551,"version":"4.3.4"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T00:00:00Z","timestamp":1769644800000},"content-version":"vor","delay-in-days":28,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"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":["Congenital Anomalies"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Osteogenesis imperfecta (OI) is a genetic disorder characterized by bone fragility and frequent fractures. The disorder is caused by pathogenic variants in genes that encode type I collagen. The\n                    <jats:italic>COL1A1<\/jats:italic>\n                    gene encodes the pro\u2010\u03b11(I) collagen chain, which assembles with another pro\u2010\u03b11(I) chain and one pro\u2010\u03b12(I) chain to form a heterotrimeric triple helix. The C\u2010terminal propeptide (C\u2010propeptide) contributes to molecular recognition and initiation of triple helix formation, thereby promoting correct chain alignment during procollagen biosynthesis. Variants in this region may disrupt chain association and folding, and impair collagen assembly. Here, we present the case of a Japanese male infant who presented with respiratory distress, pulmonary hypoplasia, recurrent fractures, and hearing loss. Radiographic examination revealed slender long bones with multiple acute and healing fractures in the ribs, clavicles, and limbs, as well as Wormian bones. Genetic analysis identified a de novo heterozygous\n                    <jats:italic>COL1A1<\/jats:italic>\n                    variant, NM_000088.4:c.4223A&gt;G, p.(Tyr1408Cys). Based on the clinical and molecular findings, the patient was diagnosed with OI type III. The patient received bisphosphonate therapy and respiratory support with continuous positive airway pressure. In silico structural modeling suggested that Tyr1408 is located near the C\u2010propeptide interface, where it may contribute to local stability through aromatic and hydrogen\u2010bonding interactions. Substitution by cysteine could alter the local folding environment and inter\u2010chain interactions. Presently, the report provides clinical and structure\u2010based context for how cysteine substitutions in the C\u2010terminal region of\n                    <jats:italic>COL1A1<\/jats:italic>\n                    may be associated with severe OI phenotypes.\n                  <\/jats:p>","DOI":"10.1002\/cga.70043","type":"journal-article","created":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T01:22:55Z","timestamp":1769736175000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A\n                    <scp>C<\/scp>\n                    \u2010Propeptide Variant in\n                    <i>COL1A1<\/i>\n                    Potentially Perturbing Disulfide Bonding in Osteogenesis Imperfecta Type\n                    <scp>III<\/scp>"],"prefix":"10.1002","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0082-9666","authenticated-orcid":false,"given":"Daisuke","family":"Watanabe","sequence":"first","affiliation":[{"name":"Department of Neonatology Perinatal Center, Yamanashi Prefectural Central Hospital  Kofu Yamanashi Japan"},{"name":"Department of Pediatrics, Faculty of Medicine University of Yamanashi  Chuo Yamanashi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuyuki","family":"Katsumata","sequence":"additional","affiliation":[{"name":"Department of Neonatology Perinatal Center, Yamanashi Prefectural Central Hospital  Kofu Yamanashi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomohiro","family":"Saito","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Yamanashi Prefectural Central Hospital  Kofu Yamanashi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reina","family":"Murasawa","sequence":"additional","affiliation":[{"name":"Department of Neonatology Perinatal Center, Yamanashi Prefectural Central Hospital  Kofu Yamanashi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reika","family":"Hagino","sequence":"additional","affiliation":[{"name":"Department of Neonatology Perinatal Center, Yamanashi Prefectural Central Hospital  Kofu Yamanashi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasushi","family":"Murakami","sequence":"additional","affiliation":[{"name":"Department of Neonatology Perinatal Center, Yamanashi Prefectural Central Hospital  Kofu Yamanashi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamao","family":"Shinohara","sequence":"additional","affiliation":[{"name":"Department of Neonatology Perinatal Center, Yamanashi Prefectural Central Hospital  Kofu Yamanashi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Maebayashi","sequence":"additional","affiliation":[{"name":"Department of Neonatology Perinatal Center, Yamanashi Prefectural Central Hospital  Kofu Yamanashi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Nemoto","sequence":"additional","affiliation":[{"name":"Department of Neonatology Perinatal Center, Yamanashi Prefectural Central Hospital  Kofu Yamanashi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Naitoh","sequence":"additional","affiliation":[{"name":"Department of Neonatology Perinatal Center, Yamanashi Prefectural Central Hospital  Kofu Yamanashi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,1,29]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22677"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010018\u201006185\u20102"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bonr.2021.101102"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2019.04.018"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1675"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/BPO.0000000000000644"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010021\u201002302\u20102"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1210\/endrev\/bnab017"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198\u2010016\u20103709\u20101"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.64016"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12354"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.7.443"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.81"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5974"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.70092"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450216"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920\u2010023\u201001697\u20103"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.4501"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2412948121"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1006\/jmbi.2001.4956"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm10143141"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/cmdc.202400590"}],"container-title":["Congenital 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