2020
DOI: 10.3390/genes11111242
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Identification and Characterization of a Novel CLCN7 Variant Associated with Osteopetrosis

Abstract: Osteopetrosis is a group of rare inheritable disorders of the skeleton characterized by increased bone density. The disease is remarkably heterogeneous in clinical presentation and often misdiagnosed. Therefore, genetic testing and molecular pathogenicity analysis are essential for precise diagnosis and new targets for preventive pharmacotherapy. Mutations in the CLCN7 gene give rise to the complete spectrum of osteopetrosis phenotypes and are responsible for about 75% of cases of autosomal dominant osteopetro… Show more

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Cited by 4 publications
(3 citation statements)
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“…Biallelic CLCN7 mutations and single allele CLCN7 mutations account for severe forms of osteopetrosis and ADO2, respectively. Despite that the mutations in CLCN7 gene, such as R286W [20], L614R [30], A511P [31], R784W [32], G793R [33], etc., have been intensively studied by virtue of the development of genomic sequenc- ing, the precise mechanism of CLCN7-related osteopetrosis remains twilight. Therefore, more efforts are necessary to unveil the disease.…”
Section: Discussionmentioning
confidence: 99%
“…Biallelic CLCN7 mutations and single allele CLCN7 mutations account for severe forms of osteopetrosis and ADO2, respectively. Despite that the mutations in CLCN7 gene, such as R286W [20], L614R [30], A511P [31], R784W [32], G793R [33], etc., have been intensively studied by virtue of the development of genomic sequenc- ing, the precise mechanism of CLCN7-related osteopetrosis remains twilight. Therefore, more efforts are necessary to unveil the disease.…”
Section: Discussionmentioning
confidence: 99%
“…15 Mutations in T cell immune regulator 1 (TCIRG1), chloride channel 7 (CLCN7), osteopetrosis-associated transmembrane protein 1, sorting nexin 10, and pleckstrin homology and RUN domain containing M1 lead to osteoclast-rich ARO, in which the osteoclasts are abundant but have severely impaired resorptive function. 16 More than 50% of ARO cases are caused by mutations in the TCIRG1 gene. 11 TCIRG1-mutated osteoclasts have a defective ruffled border and significantly reduced resorptive activity.…”
mentioning
confidence: 99%
“…18 CLCN7 is essential for bone remodeling, and mutations of the CLCN7 gene make the bone brittle. 16 Mutations in TNFSF11 (also known as RANKL) and its receptor TNFRSF11A (also known as RANK) lead to osteoclast-poor ARO. 19 IAO is attributed to hypomorphic mutations in the NF-κB essential regulator gene.…”
mentioning
confidence: 99%