ArticleBone2014
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis.
Article in Bone, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Beyond papilledema: optic disc clues reveal coexisting Chiari I malformation and osteopetrosis-a case report and systematic review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Pooled it
- Article
- A First-Case Report of Pycnodysostosis in an Omani Boy.Journal of pediatric genetics · 2022Article
- Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.Molecular genetics & genomic medicine · 2021Article
- Article
- Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians.Case reports in genetics · 2021Article
- Whole-exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis.Molecular genetics & genomic medicine · 2020Article
- Pycnodysostosis: Novel Variants inJournal of pediatric genetics · 2018Article
- Clinical and radiographic features of pycnodysostosis: A case report.Journal of clinical and experimental dentistry · 2017Article
- Cathepsin K Inhibitors for Osteoporosis: Biology, Potential Clinical Utility, and Lessons Learned.Endocrine reviews · 2017Review
- A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes.Medicine · 2017Article
- Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.European journal of medical research · 2016Article
- Sclerosing bone dysplasias: leads toward novel osteoporosis treatments.Current osteoporosis reports · 2014Review
- Current research on pycnodysostosis.Intractable & rare diseases research · 2014Article
- As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2014Article
- Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.Orphanet journal of rare diseases · 2014Article
Corrections and comments
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Authors and funding
14 authors at 7 institutions in 5 countries.
Funding
Abstract
Autosomal Recessive Osteopetrosis is a genetic disorder characterized by increased bone density due to lack of resorption by the osteoclasts. Genetic studies have widely unraveled the molecular basis of the most severe forms, while cases of intermediate severity are more difficult to characterize, probably because of a large heterogeneity. Here, we describe the use of exome sequencing in the molecular diagnosis of 2 siblings initially thought to be affected by "intermediate osteopetrosis", which identified a homozygous mutation in the CTSK gene. Prompted by this finding, we tested by Sanger sequencing 25 additional patients addressed to us for recessive osteopetrosis and found CTSK mutations in 4 of them. In retrospect, their clinical and radiographic features were found to be compatible with, but not typical for, Pycnodysostosis. We sought to identify modifier genes that might have played a role in the clinical manifestation of the disease in these patients, but our results were not informative. In conclusion, we underline the difficulties of differential diagnosis in some patients whose clinical appearance does not fit the classical malignant or benign picture and recommend that CTSK gene be included in the molecular diagnosis of high bone density conditions.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.