Mucopolysaccharidosis type IVA: Common double deletion in the N-Acetylgalactosamine-6-sulfatase gene (GALNS)
- Gifu Univ. School of Medicine, Gifu (Japan); and others
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. 39 refs., 5 figs.
- OSTI ID:
- 209936
- Journal Information:
- Genomics, Journal Name: Genomics Journal Issue: 3 Vol. 26; ISSN 0888-7543; ISSN GNMCEP
- Country of Publication:
- United States
- Language:
- English
Similar Records
Molecular analysis of mucopolysaccharidosis IVA: Common mutations and racial difference
Mucopolysaccharidosis IV A: Molecular cloning of the human N-Acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5[prime]-flanking region