Beschreibung:
<jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Multiple sulfatase deficiency (MSD) (MIM#272200) is an ultra‐rare 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‐year‐old boy with a late infantile form of multiple sulfatase deficiency. A combination of copy‐number variation sequencing (CNV‐seq) and whole‐exome 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 kb microdeletion on 3p26.1 encompassing the <jats:italic>SETMAR</jats:italic> gene and exons 4–9 of the <jats:italic>SUMF1</jats:italic> gene, and the other allele containing a novel missense mutation of c.671G>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 “likely pathogenic.” SWISS‐MODEL analysis shows that the missense mutation may alter the three‐dimensional (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>