{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T21:23:37Z","timestamp":1771104217739,"version":"3.50.1"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,5,13]],"date-time":"2021-05-13T00:00:00Z","timestamp":1620864000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,5,13]],"date-time":"2021-05-13T00:00:00Z","timestamp":1620864000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Yunnan provincial Major science and technology Foundation","award":["2018ZF009"],"award-info":[{"award-number":["2018ZF009"]}]},{"name":"The funding of eye disease clinical medical center of Yunnan province","award":["YXZX-2019058"],"award-info":[{"award-number":["YXZX-2019058"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Ophthalmol"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Mucopolysaccharidosis type VI (MPS VI) is a rare autosomal recessive inherited disease caused by mutations in the arylsulfatase B (<jats:italic>ARSB<\/jats:italic>) gene. MPS VI is a multisystemic disease resulting from a deficiency in arylsulfatase B causing an accumulation of glycosaminoglycans in the tissues and organs of the body.<\/jats:p>\n                <jats:p>In this report, we present the case of a 16-year-old Chinese male who presented with vision loss caused by corneal opacity. MPS VI was confirmed by genetic diagnosis.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 16-year-old Chinese male presented with a one-year history of binocular vision loss. The best-corrected visual acuity was 0.25 in the right eye and 0.5 in the left eye. Although slit-lamp examination revealed corneal opacification in both eyes, the ocular examinations of his parents were normal. At the same time, the patient presented with kyphotic deformity, short stature, joint and skeletal malformation, thick lips, long fingers, and coarse facial features. Genetic assessments revealed that <jats:italic>ARSB<\/jats:italic> was the causative gene. Compound heterozygous missense mutations were found in the <jats:italic>ARSB<\/jats:italic> gene, namely c.1325G\u2009&gt;\u2009A (p. Thr442Met) (M1) and c.1197G\u2009&gt;\u2009C (p. Phe399Leu) (M2). Genetic diagnosis confirmed that the patient had MPS VI.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>This paper reports a case of MPS VI confirmed by genetic diagnosis.<\/jats:p>\n                <jats:p>MPS VI is a multisystem metabolic disease, with corneal opacity as a concomitant ocular symptom. As it is difficult for ophthalmologists to definitively diagnose MPS VI, genetic testing is useful for disease confirmation.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12886-021-01979-3","type":"journal-article","created":{"date-parts":[[2021,5,13]],"date-time":"2021-05-13T18:03:03Z","timestamp":1620928983000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report"],"prefix":"10.1186","volume":"21","author":[{"given":"Ming-Fang","family":"He","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ji","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meng-Jie","family":"Dong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yin-Ting","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5001-6903","authenticated-orcid":false,"given":"Hai","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,5,13]]},"reference":[{"issue":"1\u20132","key":"1979_CR1","first-page":"89","volume":"394","author":"WD Lin","year":"2008","unstructured":"Lin WD, Lin SP, Wang CH, Hwu WL, Chuang CK, Lin SJ, et al. Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients. Clin Chim Acta. 2008;394(1\u20132):89\u201393.","journal-title":"Clin Chim Acta"},{"issue":"5","key":"1979_CR2","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1515\/bchm3.1993.374.1-6.327","volume":"374","author":"S Modaressi","year":"1993","unstructured":"Modaressi S, Rupp K, von Figura K, Peters C. Structure of the human arylsulfatase B gene. Biol Chem Hoppe Seyler. 1993;374(5):327\u201335.","journal-title":"Biol Chem Hoppe Seyler"},{"key":"1979_CR3","doi-asserted-by":"publisher","first-page":"385","DOI":"10.2741\/4490","volume":"22","author":"P Harmatz","year":"2017","unstructured":"Harmatz P, Shediac R. Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment. Front Biosci (Landmark edition). 2017;22:385\u2013406.","journal-title":"Front Biosci (Landmark edition)"},{"issue":"5","key":"1979_CR4","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1159\/000502597","volume":"10","author":"VS Hancer","year":"2020","unstructured":"Hancer VS, Buyukdogan M, Babameto-Laku A. A novel pathological ARSB mutation (c.870G>a; p.Trp290stop) in Mucopolysaccharidosis type VI patients. Mol Syndromol. 2020;10(5):272\u20135.","journal-title":"Mol Syndromol"},{"issue":"5","key":"1979_CR5","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405\u201324.","journal-title":"Genet Med"},{"key":"1979_CR6","doi-asserted-by":"publisher","first-page":"100658","DOI":"10.1016\/j.ymgmr.2020.100658","volume":"25","author":"B Zapa\u0142a","year":"2020","unstructured":"Zapa\u0142a B, Chmura O, Cia\u0142owicz U, Solnica B, Krajewska-W\u0142odarczyk M, \u017buber Z. A case of mucopolysaccharidosis type VI in a polish family. Importance of genetic testing and genotype-phenotype relationship in the diagnosis of mucopolysaccharidosis. Mol Genet Metab Rep. 2020;25:100658.","journal-title":"Mol Genet Metab Rep"},{"key":"1979_CR7","unstructured":"CADTH Common Drug Reviews. In: Galsulfase (Naglazyme). edn. Ottawa (ON): Canadian Agency for Drugs and Technologies in Health Copyright \u00a9 CADTH 2016.; 2016."},{"issue":"6","key":"1979_CR8","doi-asserted-by":"publisher","first-page":"1071","DOI":"10.1007\/s10545-012-9474-1","volume":"35","author":"A Th\u00fcmler","year":"2012","unstructured":"Th\u00fcmler A, Miebach E, Lampe C, Pitz S, Kamin W, Kampmann C, et al. Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series. J Inherit Metab Dis. 2012;35(6):1071\u20139.","journal-title":"J Inherit Metab Dis"},{"key":"1979_CR9","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1186\/1750-1172-5-5","volume":"5","author":"V Valayannopoulos","year":"2010","unstructured":"Valayannopoulos V, Nicely H, Harmatz P, Turbeville S. Mucopolysaccharidosis VI. Orphanet J Rare Dis. 2010;5:5.","journal-title":"Orphanet J Rare Dis"},{"issue":"2","key":"1979_CR10","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1002\/ajmg.a.30579","volume":"134a","author":"SJ Swiedler","year":"2005","unstructured":"Swiedler SJ, Beck M, Bajbouj M, Giugliani R, Schwartz I, Harmatz P, et al. Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Am J Med Genet Part A. 2005;134a(2):144\u201350.","journal-title":"Am J Med Genet Part A"},{"issue":"1","key":"1979_CR11","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1089\/gtmb.2016.0221","volume":"21","author":"C Ittiwut","year":"2017","unstructured":"Ittiwut C, Boonbuamas S, Srichomthong C, Ittiwut R, Suphapeetiporn K, Shotelersuk V. Novel mutations, including a large deletion in the ARSB gene, causing Mucopolysaccharidosis type VI. Genet Test Mol Biomark. 2017;21(1):58\u201362.","journal-title":"Genet Test Mol Biomark"},{"issue":"4","key":"1979_CR12","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1007\/s10792-008-9213-7","volume":"29","author":"ST Koseoglu","year":"2009","unstructured":"Koseoglu ST, Harmatz P, Turbeville S, Nicely H. Reversed papilledema in an MPS VI patient with galsulfase (Naglazyme) therapy. Int Ophthalmol. 2009;29(4):267\u20139.","journal-title":"Int Ophthalmol"},{"issue":"Suppl 5","key":"1979_CR13","doi-asserted-by":"publisher","first-page":"v34","DOI":"10.1093\/rheumatology\/ker392","volume":"50","author":"CG Summers","year":"2011","unstructured":"Summers CG, Ashworth JL. Ocular manifestations as key features for diagnosing mucopolysaccharidoses. Rheumatology (Oxford). 2011;50(Suppl 5):v34\u201340.","journal-title":"Rheumatology (Oxford)"}],"container-title":["BMC Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12886-021-01979-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12886-021-01979-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12886-021-01979-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,5,13]],"date-time":"2021-05-13T18:04:40Z","timestamp":1620929080000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcophthalmol.biomedcentral.com\/articles\/10.1186\/s12886-021-01979-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,13]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["1979"],"URL":"https:\/\/doi.org\/10.1186\/s12886-021-01979-3","relation":{},"ISSN":["1471-2415"],"issn-type":[{"value":"1471-2415","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5,13]]},"assertion":[{"value":"8 January 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 May 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 May 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The patient\u2019s legal guardian provided written, informed consent prior to undergoing this study. This study was approved by the ethics committee of The Second People\u2019s Hospital of Yunnan Province, Affiliated Hospital of Yunnan University (No.2020089).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The risk of identification of the patient was minimized and the patient\u2019s legal guardian provided written, informed consent for publication of this report.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"214"}}