{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T17:47:55Z","timestamp":1774374475332,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,11,23]],"date-time":"2019-11-23T00:00:00Z","timestamp":1574467200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004480","name":"Natural Science Foundation of Shanxi Province","doi-asserted-by":"publisher","award":["201701D221152"],"award-info":[{"award-number":["201701D221152"]}],"id":[{"id":"10.13039\/501100004480","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31700731"],"award-info":[{"award-number":["31700731"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Mucopolysaccharidosis type I (MPS I) is a rare autosomal storage disorder resulting from the defective alpha\u2010L\u2010iduronidase (encoded by <jats:italic>IDUA<\/jats:italic>) enzyme activity and accumulation of glycosaminoglycans (GAGs) in lysosomes. So far, more than 100 <jats:italic>IDUA<\/jats:italic> causative mutations have been identified leading to three MPS I phenotypic subtypes: Hurler syndrome (severe form), Hurler\/Scheie syndrome (intermediate form), and Scheie syndrome (mild form).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole\u2010exome sequencing (WES) was performed to identify the underlying genetic mutations. To verify the identified variations, Sanger sequencing was performed for all available family members following PCR amplification. The impact on IDUA protein was analyzed by sequential analysis and homology modeling.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel <jats:italic>IDUA<\/jats:italic> heterozygous single base insertion (c.1815dupT, p.V606Cfs51<jats:sup>*<\/jats:sup>) and a known missence mutation (c.T1037G, p.L346R) were detected in our patient diagnosed as congenital heart disease with heart valve abnormalities. The novel frameshift mutation results in a complete loss of 48 amino acids in the Ig\u2010like domain and causes the formation of a putative protein product which might affect the IDUA enzyme activity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>A novel compound heterozygous <jats:italic>IDUA<\/jats:italic> mutation (c.1815dupT, p.V606Cfs51<jats:sup>*<\/jats:sup>) was found in a Chinese MPS I family. The identification of the mutation facilitated accurate genetic counseling and precise medical intervention for MPS I in China.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1058","type":"journal-article","created":{"date-parts":[[2019,11,23]],"date-time":"2019-11-23T08:39:11Z","timestamp":1574498351000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Identification of a novel compound heterozygous <i>IDUA<\/i> mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree"],"prefix":"10.1002","volume":"8","author":[{"given":"Yong\u2010An","family":"Zhou","sequence":"first","affiliation":[{"name":"Bluttransfusion The Second Hospital Shanxi Medical University Shanxi Taiyuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6137-6154","authenticated-orcid":false,"given":"Ping","family":"Li","sequence":"additional","affiliation":[{"name":"Institutes of Biomedical Sciences Shanxi University Taiyuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanping","family":"Zhang","sequence":"additional","affiliation":[{"name":"Institutes of Biomedical Sciences Shanxi University Taiyuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1531-7353","authenticated-orcid":false,"given":"Qiuhong","family":"Xiong","sequence":"additional","affiliation":[{"name":"Institutes of Biomedical Sciences Shanxi University Taiyuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3895-0397","authenticated-orcid":false,"given":"Chao","family":"Li","sequence":"additional","affiliation":[{"name":"Bluttransfusion The Second Hospital Shanxi Medical University Shanxi Taiyuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhonghua","family":"Zhao","sequence":"additional","affiliation":[{"name":"Institutes of Biomedical Sciences Shanxi University Taiyuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuxian","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The First Hospital Shanxi Medical University Taiyuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Han","family":"Xiao","sequence":"additional","affiliation":[{"name":"Institutes of Biomedical Sciences Shanxi University Taiyuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,11,23]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.25"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100606"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nchembio.1357"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.01.004"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2017.27"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2016.11.036"},{"key":"e_1_2_12_8_1","first-page":"381","article-title":"The mucopolysaccharidoses. 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