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 1091delC 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 1091delC in this population.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A Case Report of Parental Germline Mosaicism in the Gene of Two Iranian Siblings.
Basic Clin Neurosci
July 2024
Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Article Synopsis
- DEE9 is a developmental and epileptic encephalopathy caused by mutations in a specific gene, leading to early-onset seizures, intellectual disabilities, and behavioral issues, particularly affecting certain females and rare male cases.
- The study reported two sisters with DEE9 who have a specific heterozygous mutation, following genetic testing methods like whole-exome sequencing and Sanger sequencing.
- The findings highlight the recognition of germline mosaicism for this gene, underlining the need for genetic counseling and considering prenatal diagnosis in families affected by X-linked or autosomal dominant disorders.
Expression and functional characterization of human mutant sulfamidase in insect cells.
Mol Genet Metab
November 2004
Departament de Genètica, Universitat de Barcelona, Spain.
Mucopolysaccharidosis IIIA (MPS IIIA; Sanfilippo syndrome) is an autosomal recessive lysosomal disorder caused by the deficiency of sulfamidase (EC 3.10.1.
View Article and Find Full Text PDFMutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.
Am J Med Genet
May 2001
Institut de Bioquímica Clínica, Barcelona, Spain.
Mucopolysaccharidosis IIIA, also known as Sanfilippo syndrome type A, is an autosomal recessive storage disorder caused by deficiency of sulfamidase. The disease results in severe central nervous system degeneration often with mild somatic features that may delay the clinical diagnosis. Molecular analyses would allow early and unequivocal heterozygote detection, providing a useful tool for genetic counselling.
View Article and Find Full Text PDFMutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.
Hum Mutat
November 1998
Departament de Genètica, Universitat de Barcelona, 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.
View Article and Find Full Text PDFIdentification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).
Hum Mutat
January 1998
Institut für Humangenetik, Universitäts-Krankenhaus Eppendorf, Hamburg, Germany.
Mucopolysaccharidosis type IIIA (MPS IIIA or Sanfilippo A disease) is a storage disorder caused by deficiency of the lysosomal enzyme sulfamidase. Mutation screening, using SSCP/heteroduplex analyses on cDNA and genomic DNA fragments, was performed in a group of 42 European patients. Sixteen of the 17 different gene mutations characterized have not been previously described.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!