Article
Genetic analysis of a novel SUMF1 variation associated with a late infantile form of multiple sulfatase deficiency.
Journal of clinical laboratory analysis - 1 Dec 2022
Zhang Jingjing, Ma Dingyuan, Liu Gang, Zeng Huasha, Wang Yuguo, Luo Chunyu, Hu Ping, Xu Zhengfeng
Abstract excerpt
BACKGROUND: Multiple sulfatase deficiency (MSD) (MIM#272200) is an ultra-rare autosomal recessive lysosomal storage disorder caused by mutation of the Sulfatase Modifying Factor 1 (SUMF1) gene. METHODS: 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...
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