title: Novel mutations in the FUCA1 gene that cause fucosidosis.
abstract: Fucosidosis is a rare lysosomal storage disorder inherited in an autosomal recessive manner. Its estimated frequency is below 1 in 200,000 live births. Its clinical phenotypes include progressive neurological and mental deterioration, coarse facial features, growth retardation, visceromegaly, angiokeratomas, and seizures. The disease is caused by mutations in the FUCA1 gene that lead to deficiency of a-L-fucosidase. Here, we describe the clinical and molecular features of a Thai boy with fucosidosis. Whole exome sequencing and array-based comparative genomic hybridization analysis revealed that the patient was compound heterozygous for a single base-pair deletion (c.670delC; p.P224LfsX2) inherited from his father, and a 3281-base-pair deletion covering exon 3 inherited from his mother. Neither mutation has been reported before so the FUCA1 mutational spectrum is herein expanded.
authors.affiliation: Faculty of Medicine, Doctor of Philosophy Program in Medical Sciences, Chulalongkorn University, Bangkok, Thailand.|Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.|Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.
authors.forename: W
authors.initials: W
authors.lastname: Panmontha
authors.affiliation: Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.|Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.
authors.forename: P
authors.initials: P
authors.lastname: Amarinthnukrowh
authors.affiliation: Division of Neurology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
authors.forename: P
authors.initials: P
authors.lastname: Damrongphol
authors.affiliation: Division of Neurology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
authors.forename: T
authors.initials: T
authors.lastname: Desudchit
authors.affiliation: Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand kanya.su@chula.ac.th.|Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand kanya.su@chula.ac.th.
authors.forename: K
authors.initials: K
authors.lastname: Suphapeetiporn
authors.affiliation: Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.|Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.
authors.forename: V
authors.initials: V
authors.lastname: Shotelersuk
mesh_terms: D000328:Adult; D002648:Child; D055028:Comparative Genomic Hybridization; D005091:Exons / Q000235:genetics; D005260:Female; D005645:Fucosidosis / Q000235:genetics* / Q000503:physiopathology; D005808:Genes, Recessive; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D005644:alpha-L-Fucosidase / Q000235:genetics*
chemical_list: C000593239:FUCA1 protein, human; D005644:alpha-L-Fucosidase