Source:http://linkedlifedata.com/resource/pubmed/id/16931222
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
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pubmed:dateCreated |
2006-8-25
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pubmed:abstractText |
Primary hyperoxaluria type 1 is caused by mutations in the alanine-glyoxylate aminotransferase (AGXT) gene. In cases in which no mutation was identified, linkage analysis can be used to confirm or exclude the diagnosis in other siblings. We present a family in which a sibling of the index case predicted to have primary hyperoxaluria type 1 by means of linkage analysis failed to show hyperoxaluria during the following 7 years, putting the diagnosis into question. Whole-gene sequence analysis identified 2 causative mutations in the index case, of which only 1, c.646A (Gly216Arg), was inherited. The other sequence change, c.33_34insC, was a de novo mutation occurring on the paternal allele. This particular mutation is a relatively common cause of primary hyperoxaluria type 1. It occurs in a run of 8 cytosines and therefore potentially is susceptible to polymerase slippage. This case illustrates 2 important points. First, biochemical confirmation of a genetic diagnosis should always be made in siblings diagnosed by using genetic tests. Second, de novo mutations should be considered as a potential, albeit rare, cause of primary hyperoxaluria type 1.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1523-6838
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pubmed:author | |
pubmed:issnType |
Electronic
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pubmed:volume |
48
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
481-3
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:16931222-Child, Preschool,
pubmed-meshheading:16931222-DNA Mutational Analysis,
pubmed-meshheading:16931222-Genetic Linkage,
pubmed-meshheading:16931222-Humans,
pubmed-meshheading:16931222-Hyperoxaluria, Primary,
pubmed-meshheading:16931222-Inheritance Patterns,
pubmed-meshheading:16931222-Male,
pubmed-meshheading:16931222-Mutation,
pubmed-meshheading:16931222-Pedigree,
pubmed-meshheading:16931222-Transaminases
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pubmed:year |
2006
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pubmed:articleTitle |
A de novo mutation in the AGXT gene causing primary hyperoxaluria type 1.
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pubmed:affiliation |
Clinical Biochemistry, UCL Hospitals, London, UK.
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pubmed:publicationType |
Journal Article,
Case Reports
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