Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1

Bone ◽  
2013 ◽  
Vol 55 (2) ◽  
pp. 292-297 ◽  
Author(s):  
Claus-Eric Ott ◽  
Björn Fischer ◽  
Phillipe Schröter ◽  
Reyk Richter ◽  
Neerja Gupta ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Homozygous Deletions ◽  
Autosomal Recessive Osteopetrosis

scholarly journals Malignant Autosomal Recessive Osteopetrosis Caused by Spontaneous Mutation of Murine Rank

2004 ◽  
Vol 19 (10) ◽  
pp. 1689-1697 ◽  
Author(s):  
Raj P Kapur ◽  
Zhenqiang Yao ◽  
Malissa HK Iida ◽  
Christine M Clarke ◽  
Barbara Doggett ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Spontaneous Mutation ◽  
Autosomal Recessive Osteopetrosis

scholarly journals R51Q SNX10 induces osteopetrosis by promoting uncontrolled fusion of monocytes to form giant, non-functional osteoclasts

2018 ◽  
Author(s):  
Maayan Barnea ◽  
Merle Stein ◽  
Sabina Winograd-Katz ◽  
Moran Shalev ◽  
Esther Arman ◽  
...  
Keyword(s):  
Bone Resorption ◽  
Mouse Model ◽  
Autosomal Recessive ◽  
Molecular Mechanisms ◽  
Precursor Cell ◽  
Unique Combination ◽  
Sorting Nexin ◽  
Autosomal Recessive Osteopetrosis

SummaryThe molecular mechanisms that regulate fusion of monocytes into functional osteoclasts are virtually unknown. We describe a knock-in mouse model for the R51Q mutation in sorting nexin 10 (SNX10) that exhibits osteopetrosis and related symptoms of patients of autosomal recessive osteopetrosis linked to this mutation. Osteopetrosis arises in homozygous R51Q SNX10 mice due to a unique combination of reduced numbers of osteoclasts that are non-functional. Fusion of mutant monocytes is deregulated and occurs rapidly and continuously to form giant, non-functional osteoclasts. Mutant osteoclasts mature quickly and survive poorly in vitro, possibly accounting for their scarcity in vivo. These cells also exhibit impaired ruffled borders, which are required for bone resorption, providing an additional basis for the osteopetrotic phenotype. More broadly, we propose that the maximal size of osteoclasts is actively determined by a genetically-regulated, cell-autonomous mechanism that limits precursor cell fusion, and for which SNX10 is required.

scholarly journals A Homozygous Contiguous Gene Deletion in Chromosome 16p13.3 Leads to Autosomal Recessive Osteopetrosis in a Jordanian Patient

2012 ◽  
Vol 91 (4) ◽  
pp. 250-254 ◽  
Author(s):  
Alessandra Pangrazio ◽  
Annalisa Frattini ◽  
Roberto Valli ◽  
Emanuela Maserati ◽  
Lucia Susani ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Gene Deletion ◽  
Contiguous Gene ◽  
Chromosome 16P13.3 ◽  
Autosomal Recessive Osteopetrosis

scholarly journals Exploitation of circulating CD34+ cells and non-genotoxic conditioning to overcome major limitations to treatment for autosomal recessive osteopetrosis

Bone Reports ◽  
2020 ◽  
Vol 13 ◽  
pp. 100596
Author(s):  
Valentina Capo ◽  
Sara Penna ◽  
Ivan Merelli ◽  
Matteo Barcella ◽  
Serena Scala ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Cd34 Cells ◽  
Autosomal Recessive Osteopetrosis

scholarly journals Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss

Genes ◽  
2019 ◽  
Vol 10 (9) ◽  
pp. 715 ◽  
Author(s):  
Sugiyama ◽  
Moteki ◽  
Kitajiri ◽  
Kitano ◽  
Nishio ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Clinical Features ◽  
Autosomal Recessive ◽  
Japanese Patients ◽  
Copy Number Variations ◽  
Clinical Feature ◽  
Single Nucleotide Variants ◽  
Characteristic Clinical Feature ◽  
Or Gene ◽  
Homozygous Deletions

The OTOA gene (Locus: DFNB22) is reported to be one of the causative genes for non-syndromic autosomal recessive hearing loss. The copy number variations (CNVs) identified in this gene are also known to cause hearing loss, but have not been identified in Japanese patients with hearing loss. Furthermore, the clinical features of OTOA-associated hearing loss have not yet been clarified. In this study, we performed CNV analyses of a large Japanese hearing loss cohort, and identified CNVs in 234 of 2262 (10.3%, 234/2262) patients with autosomal recessive hearing loss. Among the identified CNVs, OTOA gene-related CNVs were the second most frequent (0.6%, 14/2262). Among the 14 cases, 2 individuals carried OTOA homozygous deletions, 4 carried heterozygous deletions with single nucleotide variants (SNVs) in another allele. Additionally, 1 individual with homozygous SNVs in the OTOA gene was also identified. Finally, we identified 7 probands with OTOA-associated hearing loss, so that its prevalence in Japanese patients with autosomal recessive hearing loss was calculated to be 0.3% (7/2262). As novel clinical features identified in this study, the audiometric configurations of patients with OTOA-associated hearing loss were found to be mid-frequency. This is the first study focused on the detailed clinical features of hearing loss caused by this gene mutation and/or gene deletion.

Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

10.1038/77131 ◽  
2000 ◽  
Vol 25 (3) ◽  
pp. 343-346 ◽  
Author(s):  
Annalisa Frattini ◽  
Paul J. Orchard ◽  
Cristina Sobacchi ◽  
Silvia Giliani ◽  
Mario Abinun ◽  
...  
Keyword(s):  
Proton Pump ◽  
Autosomal Recessive ◽  
Vacuolar Proton Pump ◽  
Autosomal Recessive Osteopetrosis

scholarly journals The Dissection of Human Autosomal Recessive Osteopetrosis Identifies an Osteoclast-Poor Form Due to RANKL Deficiency

Cell Cycle ◽  
2007 ◽  
Vol 6 (24) ◽  
pp. 3027-3033 ◽  
Author(s):  
Annalisa Frattini ◽  
Paolo Vezzoni ◽  
Anna Villa ◽  
Cristina Sobacchi
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Osteopetrosis
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