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Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL
Autosomal recessive osteopetrosis is usually associated with normal or elevated numbers of nonfunctional osteoclasts. Here we report mutations in the gene encoding RANKL (receptor activator of…
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Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.
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Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis
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…
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Mutations in OSTM1 (Grey Lethal) Define a Particularly Severe Form of Autosomal Recessive Osteopetrosis With Neural Involvement
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.
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Human Y-chromosome variation in the western Mediterranean area: implications for the peopling of the region.
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RANK-Dependent Autosomal Recessive Osteopetrosis: Characterization of Five New Cases With Novel Mutations
TLDR
The characterization of five additional unpublished patients from four unrelated families are presented in which five novel mutations in the TNFRSF11A gene are found, including two missense and two nonsense mutations and a single‐nucleotide insertion, which further underline the heterogeneity of human ARO also deriving from the interplay between bone and the immune system.
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SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity
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.
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Osteopetrosis rescue upon RANKL administration to Rankl−/− mice: A new therapy for human RANKL‐dependent ARO
TLDR
It is demonstrated that the systematic administration of RANKL for 1 month to Rankl−/− mice, which closely resemble the human disease, significantly improves the bone phenotype and has beneficial effects on bone marrow, spleen and thymus.
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Infantile Malignant, Autosomal Recessive Osteopetrosis: The Rich and The Poor
TLDR
RANKL-dependent patients, in particular, represent an interesting subset which could benefit from mesenchymal cell transplant and/or administration of soluble RANKL cytokine, as expected from biochemical, cellular, and animal studies.
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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.
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