{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T11:18:50Z","timestamp":1769253530469,"version":"3.49.0"},"reference-count":24,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2024,1,31]],"date-time":"2024-01-31T00:00:00Z","timestamp":1706659200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"BID (Banco Iberomericano de desarrollo) in the context of the URUGENOMES Project","award":["IP011-17\/CEI\/LC\/MB"],"award-info":[{"award-number":["IP011-17\/CEI\/LC\/MB"]}]},{"name":"BID (Banco Iberomericano de desarrollo) in the context of the URUGENOMES Project","award":["FSS_X_2022_1_173209"],"award-info":[{"award-number":["FSS_X_2022_1_173209"]}]},{"DOI":"10.13039\/100008725","name":"Fondo Sectorial de Salud, ANII (Agencia Nacional de Investigaci\u00f3n e Innovaci\u00f3n)","doi-asserted-by":"publisher","award":["IP011-17\/CEI\/LC\/MB"],"award-info":[{"award-number":["IP011-17\/CEI\/LC\/MB"]}],"id":[{"id":"10.13039\/100008725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008725","name":"Fondo Sectorial de Salud, ANII (Agencia Nacional de Investigaci\u00f3n e Innovaci\u00f3n)","doi-asserted-by":"publisher","award":["FSS_X_2022_1_173209"],"award-info":[{"award-number":["FSS_X_2022_1_173209"]}],"id":[{"id":"10.13039\/100008725","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>The Kondo-Fu type of spondyloepiphyseal dysplasia (SEDKF) is a rare skeletal dysplasia caused by homozygous or compound heterozygous mutations in the MBTPS1 gene. The MBTPS1 gene encodes a protein that is involved in the regulation of cholesterol and fatty acid metabolism. Mutations in MBTPS1 can lead to reduced levels of these lipids, which can have a number of effects on development, including skeletal anomalies, growth retardation, and elevated levels of blood lysosomal enzymes. This work reports the case of a 5-year-old girl with SEDKF. The patient had a severely short stature and a number of skeletal anomalies, including kyphosis, pectus carinatum, and reduced bone mineral density. She also had early onset cataracts and inguinal hernias. Genetic testing revealed two novel compound heterozygous variants in the MBTPS1 gene. These variants are predicted to disrupt the function of the MBTPS1 protein, which is consistent with the patient\u2019s clinical presentation. This case report adds to the growing body of evidence that mutations in the MBTPS1 gene are causal of SEDKF. We summarized the features of previous reported cases (with age ranges from 4 to 24 years) and identified that 80% had low stature, 70% low weight, 80% had bilateral cataracts and 70% showed Spondyloepiphyseal dysplasia on X-rays. The findings of this study suggest that SEDKF is a clinically heterogeneous disorder that can present with a variety of features. Further studies are needed to better understand the underlying mechanisms of SEDKF and to develop more effective treatments.<\/jats:p>","DOI":"10.3390\/diagnostics14030313","type":"journal-article","created":{"date-parts":[[2024,1,31]],"date-time":"2024-01-31T09:41:59Z","timestamp":1706694119000},"page":"313","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Exome Sequencing Reveals Biallelic Mutations in MBTPS1 Gene in a Girl with a Very Rare Skeletal Dysplasia"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5389-5002","authenticated-orcid":false,"given":"V\u00edctor","family":"Raggio","sequence":"first","affiliation":[{"name":"Departamento de Gen\u00e9tica, Facultad de Medicina, Universidad de la Rep\u00fablica, Montevideo 11800, Uruguay"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soledad","family":"Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica, Facultad de Medicina, Universidad de la Rep\u00fablica, Montevideo 11800, Uruguay"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Feder","sequence":"additional","affiliation":[{"name":"Laboratorio de Gen\u00e9tica Cl\u00ednica Genodiagnosis, Montevideo 11600, Uruguay"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosario","family":"Gue\u00e7aimbur\u00fa","sequence":"additional","affiliation":[{"name":"Centro de Referencia Nacional de Defectos Cong\u00e9nitos y Enfermedades Raras (CRENADECER), Av. Agraciada 2989, Montevideo 11800, Uruguay"},{"name":"Hospital Brit\u00e1nico, Av. Italia 2420, Montevideo 11600, Uruguay"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luc\u00eda","family":"Spangenberg","sequence":"additional","affiliation":[{"name":"Departamento B\u00e1sico de Medicina, Hospital de Cl\u00ednicas, Facultad de Medicina, Universidad de la Rep\u00fablica, Montevideo 11600, Uruguay"},{"name":"Bioinformatics Unit, Institut Pasteur de Montevideo, Montevideo 11400, Uruguay"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,1,31]]},"reference":[{"key":"ref_1","first-page":"e121596","article-title":"Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking","volume":"3","author":"Kondo","year":"2018","journal-title":"Clin. 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