Mucopolysaccharidosis type IVA: Common double deletion in the N-Acetylgalactosamine-6-sulfatase gene (GALNS)

Journal Article · Mon Apr 10 00:00:00 EDT 1995 · Genomics

DOI:https://doi.org/10.1016/0888-7543(95)80172-I· OSTI ID:209936

Hori, Toshinori; Tomatsu, Shunji; Fukuda, Seiji ^[1]

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1. 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, Vol. 26, Issue 3; Other Information: PBD: 10 Apr 1995
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
GENES
STRUCTURE-ACTIVITY RELATIONSHIPS
GENE MUTATIONS
GENE RECOMBINATION
MUCOPOLYSACCHARIDES
POLYMERASE CHAIN REACTION
RECESSIVE MUTATIONS
METABOLIC DISEASES
HEREDITARY DISEASES
EXONS
GENETICS