[Mutation analysis in Hunter patients].
Mutations of the iduronate-2-sulfatase gene have been identified as responsible of Hunter syndrome or mucopolysaccharidosis type II. About 20% of the patients have deletions of the whole gene or other major structural alterations. The mutations found so far include: 34 missense, 8 nonsense, 11 small deletions from 1 to 3 bp, 2 deletions of 8 pb, 2 insertions of 1 bp and 2 insertions of 14 bp, with most leading to a frameshift and premature chain termination. Also 8 different splice-site mutations leading to insertions or deletions in the mRNA have been tabulated. Knowledge of the primary genetic defect allows insight into genotype-phenotype correlation and allows a better understanding of the structure and function of iduronate-2-sulfatase.
Villani
G R
GR
Dipartimento di Biochimica e Biotecnologie Mediche, Università Federico II di Napoli, Italia.
Balzano
N
N
Grosso
M
M
Di Natale
P
P
D001483:Base Sequence; D015139:Blotting, Southern; D002675:Child, Preschool; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D007066:Iduronate Sulfatase / Q000737:chemistry; D008969:Molecular Sequence Data; D009083:Mucopolysaccharidoses / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction
D007066:Iduronate Sulfatase
Analisi di mutazioni in pazienti Hunter.