Article
Identification of a novel homozygous loss-of-function mutation in FUCA1 gene causing severe fucosidosis: A case report.
The Journal of international medical research - 1 Apr 2021
Zhang Xinwen, Zhao Shaozhi, Liu Hongwei, Wang Xiaoyan, Wang Xiaolei, Du Nan, Liu Hui, Duan Hongfang
Abstract excerpt
Fucosidosis is a rare lysosomal storage disorder characterized by deficiency of α-L-fucosidase with an autosomal recessive mode of inheritance. Here, we describe a 4-year-old Chinese boy with signs and symptoms of fucosidosis but his parents were phenotypically normal. Whole exome sequencing (WES) identified a novel homozygous single nucleotide deletion (c.82delG) in the exon 1 of the FUCA1 gene. This mutation...
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