title: Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS).
abstract: Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder caused by a deficiency in N-acetylgalactosamine-6-sulfatase (GALNS). We found two separate deletions of nearly 8.0 and 6.0 kb in the GALNS gene, including some exons. There are Alu repetitive elements near the breakpoints of the 8.0-kb deletion, and this deletion resulted from an Alu-Alu recombination. The other 6.0-kb deletion involved illegitimate recombinational events between incomplete short direct repeats of 8 bp at deletion breakpoints. The same rearrangement has been observed in a heteroallelic state in four unrelated patients. This is the first documentation of a common double deletion a gene that is not a member of a gene cluster.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Hori
authors.forename: S
authors.initials: S
authors.lastname: Tomatsu
authors.forename: Y
authors.initials: Y
authors.lastname: Nakashima
authors.forename: A
authors.initials: A
authors.lastname: Uchiyama
authors.forename: S
authors.initials: S
authors.lastname: Fukuda
authors.forename: K
authors.initials: K
authors.lastname: Sukegawa
authors.forename: N
authors.initials: N
authors.lastname: Shimozawa
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: N
authors.initials: N
authors.lastname: Kondo
authors.forename: T
authors.initials: T
authors.lastname: Horiuchi
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D002811:Chondroitinsulfatases / Q000235:genetics*; D004247:DNA; D006801:Humans; D008969:Molecular Sequence Data; D009085:Mucopolysaccharidosis IV / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D004247:DNA; D002811:Chondroitinsulfatases