Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients
The gene resposible for Sanfilippo syndrome type A, a lysosomal disorder caused by deficiency of sulfamidase, was recently cloned and more than 40 mutations were identified. This paper presents the mutation analysis and clinical findings in 11 Spanish patients in whom 19 of the 22 mutant alleles hav...
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1998
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paper:paper_10597794_v12_n4_p274_Montfort2023-06-08T16:03:25Z Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients Clinical findings Mucopolysaccharidosis IIIA Mutation 1091delC Mutation detection Mutation frequencies Sanfilippo A SSCP Sulfamidase amidase allele article catabolism enzyme deficiency gene frequency gene location gene mutation human human cell lysosome storage disease prevalence priority journal sanfilippo syndrome single strand conformation polymorphism spain Adolescent Child Child, Preschool DNA Mutational Analysis Founder Effect Genes Haplotypes Humans Hydrolases Mucopolysaccharidosis III Mutation Polymorphism, Single-Stranded Conformational Sequence Deletion Spain The gene resposible for Sanfilippo syndrome type A, a lysosomal disorder caused by deficiency of sulfamidase, was recently cloned and more than 40 mutations were identified. This paper presents the mutation analysis and clinical findings in 11 Spanish patients in whom 19 of the 22 mutant alleles have been identified. This is the first report on mutations in Spanish Sanfilippo A patients. Seven different mutations were found, four of which (Q85R, R206P, A354P, and L386R) were not previously described. Mutation 1091del C was the most prevalent, accounting for nearly one-half of the mutated alleles, while mutations R245H and R74C were not found. Haplotype analysis suggests a founder effect as the cause of the high frequency of 1091del C in this population. 1998 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10597794_v12_n4_p274_Montfort http://hdl.handle.net/20.500.12110/paper_10597794_v12_n4_p274_Montfort |
| institution |
Universidad de Buenos Aires |
| institution_str |
I-28 |
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R-134 |
| collection |
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) |
| topic |
Clinical findings Mucopolysaccharidosis IIIA Mutation 1091delC Mutation detection Mutation frequencies Sanfilippo A SSCP Sulfamidase amidase allele article catabolism enzyme deficiency gene frequency gene location gene mutation human human cell lysosome storage disease prevalence priority journal sanfilippo syndrome single strand conformation polymorphism spain Adolescent Child Child, Preschool DNA Mutational Analysis Founder Effect Genes Haplotypes Humans Hydrolases Mucopolysaccharidosis III Mutation Polymorphism, Single-Stranded Conformational Sequence Deletion Spain |
| spellingShingle |
Clinical findings Mucopolysaccharidosis IIIA Mutation 1091delC Mutation detection Mutation frequencies Sanfilippo A SSCP Sulfamidase amidase allele article catabolism enzyme deficiency gene frequency gene location gene mutation human human cell lysosome storage disease prevalence priority journal sanfilippo syndrome single strand conformation polymorphism spain Adolescent Child Child, Preschool DNA Mutational Analysis Founder Effect Genes Haplotypes Humans Hydrolases Mucopolysaccharidosis III Mutation Polymorphism, Single-Stranded Conformational Sequence Deletion Spain Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients |
| topic_facet |
Clinical findings Mucopolysaccharidosis IIIA Mutation 1091delC Mutation detection Mutation frequencies Sanfilippo A SSCP Sulfamidase amidase allele article catabolism enzyme deficiency gene frequency gene location gene mutation human human cell lysosome storage disease prevalence priority journal sanfilippo syndrome single strand conformation polymorphism spain Adolescent Child Child, Preschool DNA Mutational Analysis Founder Effect Genes Haplotypes Humans Hydrolases Mucopolysaccharidosis III Mutation Polymorphism, Single-Stranded Conformational Sequence Deletion Spain |
| description |
The gene resposible for Sanfilippo syndrome type A, a lysosomal disorder caused by deficiency of sulfamidase, was recently cloned and more than 40 mutations were identified. This paper presents the mutation analysis and clinical findings in 11 Spanish patients in whom 19 of the 22 mutant alleles have been identified. This is the first report on mutations in Spanish Sanfilippo A patients. Seven different mutations were found, four of which (Q85R, R206P, A354P, and L386R) were not previously described. Mutation 1091del C was the most prevalent, accounting for nearly one-half of the mutated alleles, while mutations R245H and R74C were not found. Haplotype analysis suggests a founder effect as the cause of the high frequency of 1091del C in this population. |
| title |
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients |
| title_short |
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients |
| title_full |
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients |
| title_fullStr |
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients |
| title_full_unstemmed |
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients |
| title_sort |
mutation 1091delc is highly prevalent in spanish sanfilippo syndrome type a patients |
| publishDate |
1998 |
| url |
https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10597794_v12_n4_p274_Montfort http://hdl.handle.net/20.500.12110/paper_10597794_v12_n4_p274_Montfort |
| _version_ |
1768541665594703872 |