Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
Alessandra PangrazioAnnalisa Frattini

Abstract

Human malignant autosomal recessive osteopetrosis (ARO) is a genetically heterogeneous disorder caused by reduced bone resorption by osteoclasts. Biallelic mutations in the TCIRG1 gene, encoding the a3 subunit of the vacuolar proton pump, are responsible for more than one half of ARO patients. However, a few patients with monoallelic mutations have been described, raising the possibility of a dominant-like TCIRG1-dependent osteopetrosis, of a digenic disease, or of peculiar mutations difficult to detect with standard methods. We describe here a novel genomic deletion in the TCIRG1 gene explaining why, in some patients, mutations in only one allele have previously been found. The analysis of a proband from a consanguineous Turkish family allowed us to define the deletion boundaries encompassing introns 10 and 13 and occurring within AluSx repeat sequences, suggesting Alu-mediated homologous recombination as a mechanism. An identical genomic deletion at the heterozygous level was found in four unrelated Italian families in whom only a single mutated allele has previously been found. TCIRG1 haplotype analysis in these five families suggests a possible common ancestral origin for this large deletion. In summary, we describe the ide...Continue Reading

References

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Oct 31, 2003·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Annalisa FrattiniAnna Villa
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Citations

Dec 17, 2008·Calcified Tissue International·Anna VillaCristina Sobacchi
Jan 11, 2012·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·A PangrazioC Sobacchi
Feb 19, 2014·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Cristina SobacchiAnna Villa
Mar 19, 2014·Nucleus·Chen Wang, Sui Huang
Jul 24, 2013·Nature Reviews. Endocrinology·Cristina SobacchiMiep H Helfrich
Feb 10, 2011·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Noelle OchotnyJane E Aubin
Oct 1, 2011·International Journal of Immunopathology and Pharmacology·E CenniN Baldini

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