Source:http://linkedlifedata.com/resource/pubmed/id/12552563
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
2003-1-28
|
| pubmed:abstractText |
Fifty percent of the infantile malignant osteopetrosis (IMO) cases reported in the literature present mutations in the TCIRG1 gene encoding the 116-kDa osteoclast specific subunit of the vacuolar proton ATPase (ATP6I). In this study, we identified four novel mutations in a series of six IMO patients. All of these mutations correspond to single nucleotide changes and affect splice acceptor or donor sites, resulting in aberrant transcription products. We report also a missense mutation, G405R, previously described in several Costa Rican patients. This independent finding suggests that the highly conserved residue at amino acid 405 plays a critical role in the a3 subunit function. Finally, the results of this study were used to provide a prenatal diagnosis to one of the families.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Feb
|
| pubmed:issn |
1098-1004
|
| pubmed:author | |
| pubmed:issnType |
Electronic
|
| pubmed:volume |
21
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| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
151-7
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| pubmed:dateRevised |
2006-11-15
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| pubmed:meshHeading |
pubmed-meshheading:12552563-Chromosomes, Human, Pair 11,
pubmed-meshheading:12552563-Female,
pubmed-meshheading:12552563-Genes, Recessive,
pubmed-meshheading:12552563-Genetic Markers,
pubmed-meshheading:12552563-Genotype,
pubmed-meshheading:12552563-Haplotypes,
pubmed-meshheading:12552563-Humans,
pubmed-meshheading:12552563-Infant,
pubmed-meshheading:12552563-Infant, Newborn,
pubmed-meshheading:12552563-Infant, Newborn, Diseases,
pubmed-meshheading:12552563-Male,
pubmed-meshheading:12552563-Mutation,
pubmed-meshheading:12552563-Organ Specificity,
pubmed-meshheading:12552563-Osteoclasts,
pubmed-meshheading:12552563-Osteopetrosis,
pubmed-meshheading:12552563-Pedigree,
pubmed-meshheading:12552563-Prenatal Diagnosis,
pubmed-meshheading:12552563-Protein Subunits,
pubmed-meshheading:12552563-Vacuolar Proton-Translocating ATPases
|
| pubmed:year |
2003
|
| pubmed:articleTitle |
Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis.
|
| pubmed:affiliation |
Instabilité et Altérations des Génomes, UMR6549 CNRS/UNSA, Faculté de Médecine de l'Université de Nice-Sophia Antipolis, Nice, France.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Multicenter Study
|