{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T22:26:52Z","timestamp":1790807212188,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,12,2]],"date-time":"2024-12-02T00:00:00Z","timestamp":1733097600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Osteogenesis imperfecta (OI) is a heterogeneous group of rare, inherited connective tissue disorders. It includes over 20 defined subtypes, each of which is associated with distinct causative genes that are listed in the Online Mendelian Inheritance in Man (OMIM) database. Type XXII OI (OI 22) is caused by a homozygous variant in the coiled\u2010coil domain containing 134 (\n                    <jats:italic>CCDC134<\/jats:italic>\n                    ) gene, which is located on chromosome 22q13. OI, which is associated with\n                    <jats:italic>CCDC134,<\/jats:italic>\n                    is extremely rare with only five cases reported worldwide. All known cases involve the c.2\u2009T\u2009&gt;\u2009C (p. Met1Thr) homozygous missense variant in the\n                    <jats:italic>CCDC134<\/jats:italic>\n                    gene. We present the case of a 13\u2010year\u2010old Chinese girl with non\u2010union fracture, short stature and specific radiographic findings, which include scoliosis, pelvic tilt, thin clavicles, ribs, and limbs. Whole exome sequencing revealed a novel, homozygous c.492G\u2009&gt;\u2009C (p. Leu164=) variation in the\n                    <jats:italic>CCDC134<\/jats:italic>\n                    gene. RNA sequencing (RNA\u2010seq) analysis identified this variant as an abnormal splicing variant that causes the deletion of Exon 5, which result in the observed disease phenotype. This case demonstrates the clinical phenotype of OI 22 associated with the c.492G\u2009&gt;\u2009C (p. Leu164=) novel synonymous variation in the coding region of the\n                    <jats:italic>CCDC134<\/jats:italic>\n                    gene in a female patient. This is the first reported case of OI 22 in the Chinese population, the sixth reported worldwide and the fourth reported genotype for diseases associated with a\n                    <jats:italic>CCDC134<\/jats:italic>\n                    variant. It also enriches the global clinical phenotype spectrum of OI 22 patients.\n                  <\/jats:p>","DOI":"10.1111\/cge.14664","type":"journal-article","created":{"date-parts":[[2024,12,3]],"date-time":"2024-12-03T00:38:58Z","timestamp":1733186338000},"page":"446-452","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A Novel Homozygous Synonymous Variant in\n                    <scp>\n                      <i>CCDC134<\/i>\n                    <\/scp>\n                    as a Cause of Osteogenesis Imperfecta Type\n                    <scp>XXII<\/scp>"],"prefix":"10.1111","volume":"107","author":[{"given":"Haiping","family":"Ning","sequence":"first","affiliation":[{"name":"Department of Paediatric Endocrinology Genetics and Rare Diseases, Liuzhou Hospital, Guangzhou Women and Children's Medical Center  Liuzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5350-4892","authenticated-orcid":false,"given":"Cuili","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Genetics and Endocrinology Guangzhou Women and Children's Medical Center, Guangzhou Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huifen","family":"Mei","sequence":"additional","affiliation":[{"name":"Department of Genetics and Endocrinology Guangzhou Women and Children's Medical Center, Guangzhou Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9884-2158","authenticated-orcid":false,"given":"Dejian","family":"Yuan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Liuzhou Hospital, Guangzhou Women and Children's Medical Center  Liuzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaobao","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Liuzhou Hospital, Guangzhou Women and Children's Medical Center  Liuzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology Genetics and Rare Diseases, Liuzhou Hospital, Guangzhou Women and Children's Medical Center  Liuzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongdong","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology Genetics and Rare Diseases, Liuzhou Hospital, Guangzhou Women and Children's Medical Center  Liuzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianqiang","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology Genetics and Rare Diseases, Liuzhou Hospital, Guangzhou Women and Children's Medical Center  Liuzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,12,2]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bonr.2022.101171"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-20-0299"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0000000000000813"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-007-7448-5"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00418-012-0932-5"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.4011"},{"issue":"6","key":"e_1_2_11_8_1","first-page":"512","article-title":"Fetal Fractures in an Infant With Maternal Ehlers\u2010Danlos Syndrome, CCDC134 Pathogenic Mutation and a Negative Genetic Test for Osteogenesis Imperfecta","volume":"8","author":"Holick M. F.","year":"2021","journal-title":"Children (Basel)"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62651"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-022-01104-0"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24097843"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/01202412-200511000-00013"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2015.03.011"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-022-04823-w"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-022-04743-x"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1159\/000381713"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2007.00390.x"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14664","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T03:31:01Z","timestamp":1741750261000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14664"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,2]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,4]]}},"alternative-id":["10.1111\/cge.14664"],"URL":"https:\/\/doi.org\/10.1111\/cge.14664","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14664\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14664\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14664\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14664\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14664\/v1\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,2]]},"assertion":[{"value":"2024-09-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-11-20","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-02","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}