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A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome. 1998

G Bonuccelli, and S Regis, and M Filocamo, and F Corsolini, and F Caroli, and R Gatti
Laboratorio di Diagnosi Pre e Postnatale di Malattie Metaboliche, Genova, Italy.

A large deletion in the iduronate-2-sulfatase (IDS) gene has been found in a patient affected by an intermediate form of Hunter syndrome (mucopolysaccharidosis II). The deletion involves exons 2-4, the breakpoints lying respectively in intron 1, at position 376, and in intron 4, at position 5725. cDNA analysis revealed a direct exon 1-exon 5 junction due to the deletion resulting in a frameshift mutation.

UI MeSH Term Description Entries
D007066 Iduronate Sulfatase An enzyme that specifically cleaves the ester sulfate of iduronic acid. Its deficiency has been demonstrated in Hunter's syndrome, which is characterized by an excess of dermatan sulfate and heparan sulfate. EC 3.1.6.13. Hunter Corrective Factor,Iduronatesulfate Sulfohydrolase,Sulfoiduronate Sulfatase,Iduronate Sulfate Sulfatase,Corrective Factor, Hunter,Factor, Hunter Corrective,Sulfatase, Iduronate,Sulfatase, Iduronate Sulfate,Sulfatase, Sulfoiduronate,Sulfate Sulfatase, Iduronate,Sulfohydrolase, Iduronatesulfate
D008297 Male Males
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D005091 Exons The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. Mini-Exon,Exon,Mini Exon,Mini-Exons
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000595 Amino Acid Sequence The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION. Protein Structure, Primary,Amino Acid Sequences,Sequence, Amino Acid,Sequences, Amino Acid,Primary Protein Structure,Primary Protein Structures,Protein Structures, Primary,Structure, Primary Protein,Structures, Primary Protein
D001483 Base Sequence The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence. DNA Sequence,Nucleotide Sequence,RNA Sequence,DNA Sequences,Base Sequences,Nucleotide Sequences,RNA Sequences,Sequence, Base,Sequence, DNA,Sequence, Nucleotide,Sequence, RNA,Sequences, Base,Sequences, DNA,Sequences, Nucleotide,Sequences, RNA
D016532 Mucopolysaccharidosis II Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15. Gargoylism, Hunter Syndrome,Hunter's Syndrome,Iduronate 2-Sulfatase Deficiency,Iduronate Sulfatase Deficiency,Sulfoiduronate Sulfatase Deficiency,Hunter Syndrome,Hunter Syndrome Gargoylism,I2S Deficiency,Mucopolysaccharidosis 2,Mucopolysaccharidosis Type 2,Mucopolysaccharidosis Type II,Deficiency, I2S,Deficiency, Iduronate 2-Sulfatase,Deficiency, Iduronate Sulfatase,Deficiency, Sulfoiduronate Sulfatase,Hunters Syndrome,Iduronate 2 Sulfatase Deficiency,Syndrome, Hunter,Syndrome, Hunter's
D017384 Sequence Deletion Deletion of sequences of nucleic acids from the genetic material of an individual. Deletion Mutation,Deletion Mutations,Deletion, Sequence,Deletions, Sequence,Mutation, Deletion,Mutations, Deletion,Sequence Deletions

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