Abstract |
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.
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Authors | Jean-Claude Scimeca, Danielle Quincey, Hugues Parrinello, Delphine Romatet, Josiane Grosgeorge, Patrick Gaudray, Nicole Philip, Alain Fischer, Georges F Carle |
Journal | Human mutation
(Hum Mutat)
Vol. 21
Issue 2
Pg. 151-7
(Feb 2003)
ISSN: 1098-1004 [Electronic] United States |
PMID | 12552563
(Publication Type: Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't)
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Chemical References |
- Genetic Markers
- Protein Subunits
- TCIRG1 protein, human
- Vacuolar Proton-Translocating ATPases
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Topics |
- Chromosomes, Human, Pair 11
(genetics)
- Female
- Genes, Recessive
(genetics)
- Genetic Markers
(genetics)
- Genotype
- Haplotypes
(genetics)
- Humans
- Infant
- Infant, Newborn
- Infant, Newborn, Diseases
(diagnosis, genetics, mortality)
- Male
- Mutation
(genetics)
- Organ Specificity
(genetics)
- Osteoclasts
(classification, metabolism)
- Osteopetrosis
(diagnosis, genetics, mortality)
- Pedigree
- Prenatal Diagnosis
- Protein Subunits
(genetics)
- Vacuolar Proton-Translocating ATPases
(genetics)
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