{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T00:02:26Z","timestamp":1773792146541,"version":"3.50.1"},"reference-count":34,"publisher":"Oxford University Press (OUP)","issue":"19","license":[{"start":{"date-parts":[[2025,8,6]],"date-time":"2025-08-06T00:00:00Z","timestamp":1754438400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,9,19]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>SPONASTRIME dysplasia is a rare genetic disorder characterized by short stature, facial abnormalities, vertebral issues, and bone striations, caused by recessive mutations in the TONSL gene. We reported a 6-year-old boy with characteristic clinical features of SPONASTRIME dysplasia, accompanied by neutropenia. Genetic analysis revealed biallelic variants in TONSL: mother-inherited c.1289del (p.Gln430ArgfsTer13) and father-inherited c.1961G\u2009&amp;gt;\u2009C (p.Arg654Pro), both of which were previously unreported. We predicted the c.1289del (p.Gln430ArgfsTer13) variant as likely pathogenic in silico analysis, while the c.1961G\u2009&amp;gt;\u2009C (p.Arg654Pro) variant as uncertain pathogenicity in silico analysis, and the pathogenicity was confirmed by functional studies in transfected HEK 293\u00a0T cells. Six-month growth hormone therapy was administered to the patient after confirmed diagnosis, with limited improvement. These findings have important implications for the diagnosis and treatment of the disease.<\/jats:p>","DOI":"10.1093\/hmg\/ddaf128","type":"journal-article","created":{"date-parts":[[2025,7,29]],"date-time":"2025-07-29T11:33:46Z","timestamp":1753788826000},"page":"1665-1673","source":"Crossref","is-referenced-by-count":1,"title":["A case report of SPONASTRIME dysplasia with novel <i>TONSL<\/i> mutation: genetic analysis, clinical manifestations, and the effect of growth hormone treatment"],"prefix":"10.1093","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-6313-9754","authenticated-orcid":false,"given":"Minglan","family":"Yao","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology , No. 1095, Jiefang Avenue, Wuhan, Hubei Province 430030,","place":["P. R. China"]},{"name":"Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases , No. 1095, Jiefang Avenue, Wuhan, Hubei Province 430030,","place":["P. R. China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cai","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology , No. 1095, Jiefang Avenue, Wuhan, Hubei Province 430030,","place":["P. R. China"]},{"name":"Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases , No. 1095, Jiefang Avenue, Wuhan, Hubei Province 430030,","place":["P. R. China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sujuan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology , No. 1095, Jiefang Avenue, Wuhan, Hubei Province 430030,","place":["P. R. China"]},{"name":"Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases , No. 1095, Jiefang Avenue, Wuhan, Hubei Province 430030,","place":["P. R. China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anran","family":"Tian","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology , No. 1095, Jiefang Avenue, Wuhan, Hubei Province 430030,","place":["P. R. China"]},{"name":"Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases , No. 1095, Jiefang Avenue, Wuhan, Hubei Province 430030,","place":["P. R. China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Furong","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology , No. 1095, Jiefang Avenue, Wuhan, Hubei Province 430030,","place":["P. R. China"]},{"name":"Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases , No. 1095, Jiefang Avenue, Wuhan, Hubei Province 430030,","place":["P. R. China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3748-4817","authenticated-orcid":false,"given":"Xiaoping","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology , No. 1095, Jiefang Avenue, Wuhan, Hubei Province 430030,","place":["P. R. China"]},{"name":"Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases , No. 1095, Jiefang Avenue, Wuhan, Hubei Province 430030,","place":["P. R. China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,8,6]]},"reference":[{"key":"2025091922535119500_ref1","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.1002\/ajmg.a.63132","article-title":"Nosology of genetic skeletal disorders: 2023 revision","volume":"191","author":"Unger","year":"2023","journal-title":"Am J Med Genet A"},{"key":"2025091922535119500_ref2","first-page":"267","article-title":"The SPONASTRIME dysplasia: familial short-limb dwarfism with saddle nose, spinal alterations and metaphyseal striation. 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