{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T09:56:46Z","timestamp":1753869406999,"version":"3.41.2"},"reference-count":26,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,11,28]],"date-time":"2022-11-28T00:00:00Z","timestamp":1669593600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Multiple sulfatase deficiency (MSD) (MIM#272200) is an ultra\u2010rare autosomal recessive lysosomal storage disorder caused by mutation of the Sulfatase Modifying Factor 1 (<jats:italic>SUMF1<\/jats:italic>) gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Herein, we report an eight\u2010year\u2010old boy with a late infantile form of multiple sulfatase deficiency. A combination of copy\u2010number variation sequencing (CNV\u2010seq) and whole\u2010exome sequencing (WES) were used to analyze the genetic cause for the MSD patient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Our results, previously not seen in China, show a novel compound heterozygous mutation with one allele containing a 240.55\u2009kb microdeletion on 3p26.1 encompassing the <jats:italic>SETMAR<\/jats:italic> gene and exons 4\u20139 of the <jats:italic>SUMF1<\/jats:italic> gene, and the other allele containing a novel missense mutation of c.671G&gt;A (p.Arg224Gln) in the <jats:italic>SUMF1<\/jats:italic> gene. Both were inherited from the proband's unaffected parents, one from each. Bioinformatics analyses show the novel variation to be \u201clikely pathogenic.\u201d SWISS\u2010MODEL analysis shows that the missense mutation may alter the three\u2010dimensional (3D) structure.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In summary, this study reported a novel compound heterozygous with microdeletion in <jats:italic>SUMF1<\/jats:italic> gene, which has not been reported in China. The complex clinical manifestations of MSD may delay diagnosis; however, molecular genetic analysis of the <jats:italic>SUMF1<\/jats:italic> gene can be performed to help obtain an early diagnosis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.24786","type":"journal-article","created":{"date-parts":[[2022,11,28]],"date-time":"2022-11-28T17:04:54Z","timestamp":1669655094000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic analysis of a novel <i>SUMF1<\/i> variation associated with a late infantile form of multiple sulfatase deficiency"],"prefix":"10.1002","volume":"36","author":[{"given":"Jingjing","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Women's Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dingyuan","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Women's Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gang","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Women's Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huasha","family":"Zeng","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Women's Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuguo","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Women's Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunyu","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Women's Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ping","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Women's Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7824-7578","authenticated-orcid":false,"given":"Zhengfeng","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Women's 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