BIOMAT Database Logo BIOMAT Database Logo

Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). 1993

S Bunge, and C Steglich, and C Zuther, and M Beck, and C P Morris, and E Schwinger, and A Schinzel, and J J Hopwood, and A Gal
Institut für Humangenetik, Medizinische Universität, Lübeck, Germany.

Mutations of the iduronate-2-sulfatase gene were identified in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). Together with another 10 cases reported by us earlier it emerges that about 20% of the patients have deletions of the whole gene or other major structural alterations. One, two or three base pair deletions are found in about 23% of the cases while the remaining about 57% carry point mutations predicting amino acid replacement, premature termination of translation, or aberrant splicing. Molecular analysis of mRNA in splice site mutants showed that these latter defects frequently resulted in use of cryptic splice sites in exons or introns. 62% of the small deletions and point mutations have occurred in 3 of the 9 iduronate-2-sulfatase gene exons. Knowledge of the primary genetic defect allows fast and reliable carrier detection and prenatal diagnosis as well as insight into the relationship between genotype and phenotype.

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
D007438 Introns Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes. Intervening Sequences,Sequences, Intervening,Intervening Sequence,Intron,Sequence, Intervening
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
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D003062 Codon A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE). Codon, Sense,Sense Codon,Codons,Codons, Sense,Sense Codons
D005260 Female Females
D005838 Genotype The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. Genogroup,Genogroups,Genotypes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

S Bunge, and C Steglich, and C Zuther, and M Beck, and C P Morris, and E Schwinger, and A Schinzel, and J J Hopwood, and A Gal
Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II).
January 1994, Human mutation,
S Bunge, and C Steglich, and C Zuther, and M Beck, and C P Morris, and E Schwinger, and A Schinzel, and J J Hopwood, and A Gal
Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.
December 1996, American journal of human genetics,
S Bunge, and C Steglich, and C Zuther, and M Beck, and C P Morris, and E Schwinger, and A Schinzel, and J J Hopwood, and A Gal
Assessment of iduronate-2-sulfatase mRNA expression in Hunter syndrome (mucopolysaccharidosis type II).
November 1992, Human genetics,
S Bunge, and C Steglich, and C Zuther, and M Beck, and C P Morris, and E Schwinger, and A Schinzel, and J J Hopwood, and A Gal
Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).
January 1999, Journal of medical genetics,
S Bunge, and C Steglich, and C Zuther, and M Beck, and C P Morris, and E Schwinger, and A Schinzel, and J J Hopwood, and A Gal
[Detection of two novel mutations of iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II].
January 2007, Yi chuan = Hereditas,
S Bunge, and C Steglich, and C Zuther, and M Beck, and C P Morris, and E Schwinger, and A Schinzel, and J J Hopwood, and A Gal
Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.
January 1995, Human mutation,
S Bunge, and C Steglich, and C Zuther, and M Beck, and C P Morris, and E Schwinger, and A Schinzel, and J J Hopwood, and A Gal
Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.
February 1996, Human genetics,
S Bunge, and C Steglich, and C Zuther, and M Beck, and C P Morris, and E Schwinger, and A Schinzel, and J J Hopwood, and A Gal
Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II.
May 2011, Diagnostic pathology,
S Bunge, and C Steglich, and C Zuther, and M Beck, and C P Morris, and E Schwinger, and A Schinzel, and J J Hopwood, and A Gal
Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase.
July 2016, Molecular genetics and metabolism,
S Bunge, and C Steglich, and C Zuther, and M Beck, and C P Morris, and E Schwinger, and A Schinzel, and J J Hopwood, and A Gal
Retroviral-mediated transfer of the iduronate-2-sulfatase gene into lymphocytes for treatment of mild Hunter syndrome (mucopolysaccharidosis type II).
March 1996, Human gene therapy,
Copied contents to your clipboard!