{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:37:54Z","timestamp":1753871874349,"version":"3.41.2"},"reference-count":22,"publisher":"Portland Press Ltd.","issue":"6","license":[{"start":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T00:00:00Z","timestamp":1590969600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,6,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Proximal symphalangism (SYM1) is an autosomal dominant disorder manifested by ankylosis of the proximal interphalangeal joints of fingers, carpal and tarsal bone fusion, and conductive hearing loss in some cases. Herein, we clinically diagnosed a Chinese patient with fusions of the bilateral proximal interphalangeal joints in the 2\u20135 digits without conductive hearing loss. Family history investigation revealed that his mother and grandfather also suffered from SYM1. Whole exome sequencing was performed to detect the genetic lesion of the family. The candidate gene variants were validated by Sanger sequencing. By data filtering, co-segregation analysis and bioinformatics analysis, we highly suspected that an unknown heterozygous frameshift variant (c.635_636insG, p.Q213Pfs*57) in NOG was responsible for the SYM1 in the family. This variant was predicted to be deleterious and resulted in a prolonged protein. This finding broadened the spectrum of NOG mutations associated with SYM1 and contributed to genetic diagnosis and counseling of families with SYM1.<\/jats:p>","DOI":"10.1042\/bsr20200509","type":"journal-article","created":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T10:21:04Z","timestamp":1591006864000},"update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Identification of an unknown frameshift variant of <i>NOG<\/i> in a Han Chinese family with proximal symphalangism"],"prefix":"10.1042","volume":"40","author":[{"given":"Zhuang-Zhuang","family":"Yuan","sequence":"first","affiliation":[{"name":"Department of Orthopaedics, Xiangya Hospital of Central South University, Changsha, China"},{"name":"Department of Cell Biology, School of Life Sciences, Central South University, Changsha, China"},{"name":"Human Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Central South University, Changsha, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics, Xiangya Hospital of Central South University, Changsha, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie-Yuan","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Cell Biology, School of Life Sciences, Central South University, Changsha, China"},{"name":"Human Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Central South University, Changsha, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zi-Jun","family":"Jiao","sequence":"additional","affiliation":[{"name":"Department of Cell Biology, School of Life Sciences, Central South University, Changsha, China"},{"name":"Human Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Central South University, Changsha, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ju-Yu","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics, Xiangya Hospital of Central South University, Changsha, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5521-3615","authenticated-orcid":false,"given":"Rong","family":"Xiang","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics, Xiangya Hospital of Central South University, Changsha, China"},{"name":"Department of Cell Biology, School of Life Sciences, Central South University, Changsha, China"},{"name":"Human Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Central South University, Changsha, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"288","published-online":{"date-parts":[[2020,6,15]]},"reference":[{"key":"2021111620154928600_B1","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1016\/j.bone.2016.10.010","article-title":"Sclerostin deficiency in humans","volume":"96","author":"van Lierop","year":"2017","journal-title":"Bone"},{"key":"2021111620154928600_B2","doi-asserted-by":"publisher","first-page":"353","DOI":"10.3389\/fgene.2019.00353","article-title":"Identification of a novel NOG Missense mutation in a Chinese family with symphalangism and tarsal coalitions","volume":"10","author":"Xiong","year":"2019","journal-title":"Front. 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