Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis

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...

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Bibliographic Details
Published in:	Human mutation Vol. 21; no. 2; pp. 151 - 157
Main Authors:	Scimeca, Jean‐Claude, Quincey, Danielle, Parrinello, Hugues, Romatet, Delphine, Grosgeorge, Josiane, Gaudray, Patrick, Philip, Nicole, Fischer, Alain, Carle, Georges F.
Format:	Journal Article
Language:	English
Published:	New York Wiley Subscription Services, Inc., A Wiley Company 01-02-2003 Hindawi Limited Wiley
Subjects:	ATP6I Biochemistry Biochemistry, Molecular Biology Bioengineering Biomaterials Cancer Cell Behavior Cellular Biology Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 11 - genetics Female Genes, Recessive Genes, Recessive - genetics Genetic Markers Genetic Markers - genetics Genomics Genotype Haplotypes Haplotypes - genetics Human health and pathology Humans IMO Infant Infant, Newborn Infant, Newborn, Diseases Infant, Newborn, Diseases - diagnosis Infant, Newborn, Diseases - genetics Infant, Newborn, Diseases - mortality Life Sciences Male Molecular biology Mutation Mutation - genetics Organ Specificity Organ Specificity - genetics osteoclast Osteoclasts Osteoclasts - classification Osteoclasts - metabolism Osteopetrosis Osteopetrosis - diagnosis Osteopetrosis - genetics Osteopetrosis - mortality osteopetrosis, human, infantile malignant form Pedigree Prenatal Diagnosis Protein Subunits Protein Subunits - genetics Rhumatology and musculoskeletal system TCIRG1 Vacuolar Proton-Translocating ATPases Vacuolar Proton-Translocating ATPases - genetics V‐ATPase
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Summary:	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. Hum Mutat 21:151–157, 2003 © 2003 Wiley‐Liss, Inc.
Bibliography:	www.interscience.wiley.com/humanmutation/suppmat/2003/v21.html The supplementary material referred to in this article can be viewed at . Communicated by William S. Sly ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 ObjectType-Article-1 ObjectType-Feature-2
ISSN:	1059-7794 1098-1004
DOI:	10.1002/humu.10165