Linked Life Data

16125993

Source:http://linkedlifedata.com/resource/pubmed/id/16125993

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-2
pubmed:dateCreated
2005-10-5
pubmed:abstractText
Multiple sulfatase deficiency (MSD) is a rare autosomal recessive lysosomal storage disease characterized by impaired activity of all known sulfatases. The gene SUMF1, recently identified, encodes the enzyme responsible for post-translational modification of a cysteine residue, which is essential for the activity of sulfatases. Fewer than 30 MSD patients have been reported to date and 23 different mutations in the SUMF1 gene have been identified. Here, we present the characterization of the mutant alleles of two Spanish and one Argentinean MSD patients. While the two Spanish patients were homozygous for the previously described mutations, c.463T>C (p.S155P) and c.1033C>T (p.R345C), the Argentinean patient was homozygous for the new mutation IVS7+5 G>T. A minigene approach was used to analyze the effect of the splice site mutation identified, due to the lack of sample from the patient. This experiment showed that this change altered the normal splicing of the RNA, which strongly suggests that this is the molecular cause of the disease in this patient.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1096-7192
pubmed:author
pubmed:issnType
Print
pubmed:volume
86
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
206-11
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:articleTitle
Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation.
pubmed:affiliation
Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't