Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis
@article{Frattini2003ChlorideCC,
title={Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis},
author={Annalisa Frattini and Alessandra Pangrazio and Lucia Susani and Cristina Sobacchi and Massimiliano Mirolo and Mario Abinun and Marino Andolina and Adrienne M. Flanagan and Edwin M Horwitz and Ercan Mihci and Luigi Daniele Notarangelo and Ugo Ramenghi and Anna Teti and Johan L. K. Van Hove and Dragana Vuji{\'c} and Terri L. Young and Alberto Albertini and Paul J. Orchard and Paolo Vezzoni and Anna Villa},
journal={Journal of Bone and Mineral Research},
year={2003},
volume={18}
}Among 94 osteopetrotic patients presenting with a severe clinical picture and diagnosed early in life, 12 bore mutations in the ClCN7 gene, but only 7 of them had the expected two recessive mutations. The remaining five patients seem to be heterozygous for a ClCN7 mutation, and significant variations were observed in the clinical manifestations of their disease, even within the same family.
209 Citations
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- 2006
It is suggested that OSTM1 defines a new subset of patients with severe central nervous system involvement that is also present in the gl mouse, which could represent a good model to study the role of the gene in the pathogenesis of this disease.
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- Medicine, BiologyMolecular pain
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Exome sequencing and Sanger sequencing were conducted in Han Chinese family members, and a novel missense variant c.2350A>T (p.R784W) in the chloride channel 7 gene (CLCN7) was identified, widening the CLCN7 gene mutation spectrum.
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- Medicine, BiologyJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
- 2008
A novel mutation affecting the OSTM1 locus responsible for ARO is described, and a patient developed a unique neuronal pathology that provided evidence for an essential role of O STM1 in normal neuronal cell development.
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- Biology, MedicineJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
- 2013
Results confirm the involvement of the SNX10 gene in human ARO and identify a new subset with a relatively favorable prognosis as compared to TCIRG1‐dependent cases.
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- Biology, MedicineJournal of Medical Case Reports
- 2013
The investigation to identify the type of the inheritance patterns of osteopetrosis using molecular techniques, because consanguineous marriages exist within the family history, found that the father and his brother (the uncle) are carriers of the same mutation, whereas the mother and her sister do not carry any mutation of the Chloride channel 7 gene.
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- MedicineJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
- 2004
Infantile malignant autosomal recessive osteopetrosis is a genetically heterogeneous disease caused by the inability of OCLs to resorb and remodel bone, resulting in generalized osteosclerosis and…
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