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. 
Mutations in OSTM1 (Grey Lethal) Define a Particularly Severe Form of Autosomal Recessive Osteopetrosis With Neural Involvement
  • A. Pangrazio, P. L. Poliani, A. Frattini
  • Biology, Medicine
    Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
  • 2006
TLDR
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.
Molecular and clinical heterogeneity in CLCN7‐dependent osteopetrosis: report of 20 novel mutations
TLDR
Preliminary genotype‐phenotype correlations suggest that haploinsufficiency is not the mechanism causing ADO II, and the availability of biochemical assays to characterize ClC‐7 function will help to confirm this hypothesis.
A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis
TLDR
This is the first report of ARO associated with a novel recessive R561Q variant in CLCN7 gene, in which prenatal diagnosis was made and the variant observed indeed represents the disease-causing mutation.
Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2
TLDR
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.
Clinical and Cellular Manifestations of OSTM1‐Related Infantile Osteopetrosis
  • B. Maranda, G. Chabot, J. Vacher
  • Medicine, Biology
    Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
  • 2008
TLDR
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.
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity
  • A. Pangrazio, A. Fasth, C. Sobacchi
  • Biology, Medicine
    Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
  • 2013
TLDR
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.
A novel missense mutation in the CLCN7 gene linked to benign autosomal dominant osteopetrosis: a case series
TLDR
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.
Severe Malignant Osteopetrosis Caused by a GL Gene Mutation
  • P. Quarello, M. Forni, U. Ramenghi
  • Medicine
    Journal 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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