[Mutation analysis in Hunter patients].

G R Villani; N Balzano; M Grosso; P Di Natale

PubMed · 8685029

[Mutation analysis in Hunter patients].

G R Villani·N Balzano·M Grosso·P Di Natale

Abstract

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.

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Base Sequence Blotting, Southern Child, Preschool Gene Deletion Genotype Humans Iduronate Sulfatase Molecular Sequence Data Mucopolysaccharidoses Phenotype Polymerase Chain Reaction English Abstract Journal Article Review

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G R Villani, N Balzano, M Grosso, P Di Natale. [Mutation analysis in Hunter patients].. https://pubmed.ncbi.nlm.nih.gov/8685029/

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