Identification of a novel homozygous loss-of-function mutation in FUCA1 gene causing severe fucosidosis: A case report.

Abstract

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 will lead to a frameshift which will result in the formation of a truncated FUCA1 protein (p.Val28Cysfs*105) of 132 amino acids approximately one-third the size of the wild type FUCA1 protein (466 amino acids). Both parents were carrying the mutation in a heterozygous state. This study expands the mutational spectrum of the FUCA1 gene associated with fucosidosis and emphasises the benefits of WES for accurate and timely clinical diagnosis of this rare disease.

• Authors: Xinwen Zhang, Shaozhi Zhao, Hongwei Liu, Xiaoyan Wang, Xiaolei Wang, Nan Du, Hui Liu, Hongfang Duan
• Journal: The Journal of international medical research (J Int Med Res) Vol. 49 Issue 4 Pg. 3000605211005975 (Apr 2021) ISSN: 1473-2300 [Electronic] England
• PMID: 33906529 (Publication Type: Case Reports, Journal Article)

Chemical References

• FUCA1 protein, human
• alpha-L-Fucosidase

Topics

• Child, Preschool
• Exons
• Fucosidosis (diagnosis, genetics)
• Homozygote
• Humans
• Male
• Mutation
• alpha-L-Fucosidase (genetics)