ArticleOrphanet journal of rare diseases2014
Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.
Article in Orphanet journal of rare diseases, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 44 citations in OpenAlex.
- Pycnodysostosis: Report of Two Novel CTSK Variants in a Child.Clinics and practice · 2026Article
- Article
- From genotype to phenotype: the impact of early management in pycnodysostosis.Endocrinology, diabetes & metabolism case reports · 2025Article
- A Rare Case of Pyknodysostosis (Toulouse-Lautrec Syndrome): Dental Perspectives on Comprehensive Management.Journal of clinical and experimental dentistry · 2025Article
- Pathological Fractures in Patients Affected by Pycnodysostosis: A Case Series.Journal of clinical medicine · 2024Article
- Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene.Molecular genetics & genomic medicine · 2022Article
- A First-Case Report of Pycnodysostosis in an Omani Boy.Journal of pediatric genetics · 2022Article
- Article
- Article
- Overexpression of cathepsin K and vascular endothelial growth factor in chronic venous ulcerations.Postepy dermatologii i alergologii · 2020Article
- Reassessing enzyme kinetics: Considering protease-as-substrate interactions in proteolytic networks.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- The Osteocyte as the New Discovery of Therapeutic Options in Rare Bone Diseases.Frontiers in endocrinology · 2020Review
- A Novel Variant c.847T>C inClinical medicine insights. Case reports · 2019Article
- Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2018Article
- Pycnodysostosis: Novel Variants inJournal of pediatric genetics · 2018Article
- Bone health in patients with inborn errors of metabolism.Reviews in endocrine & metabolic disorders · 2018Review
- Cathepsin K Inhibitors for Osteoporosis: Biology, Potential Clinical Utility, and Lessons Learned.Endocrine reviews · 2017Review
- 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
- From disease to treatment: from rare skeletal disorders to treatments for osteoporosis.Endocrine · 2016Review
- Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations.Journal of dental research · 2015Article
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12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTo characterize cathepsin K (CTSK) mutations in a group of patients with pycnodysostosis, who presented with either short stature or atypical fractures to pediatric endocrinology or dysmorphic features to pediatric genetics clinics.
methodsSeven exons and exon/intron boundaries of CTSK gene for the children and their families were amplified with PCR and sequenced. Sixteen patients from 14 families with pycnodysostosis, presenting with typical dysmorphic features, short stature, frequent fractures and osteosclerosis, were included in the study.
resultsWe identified five missense mutations (M1I, I249T, L7P, D80Y and D169N), one nonsense mutation (R312X) and one 301 bp insertion in intron 7, which is revealed as Alu sequence; among them, only L7P and I249 were described previously. The mutations were homozygous in all cases, and the families mostly originated from the region where consanguineous marriage rate is the highest. Patients with M1I mutation had fractures, at younger ages than the other pycnodysostosis cases in our cohort which were most probably related to the severity of mutation, since M1I initiates the translation, and mutation might lead to the complete absence of the protein. The typical finding of pycnodysostosis, acroosteolysis, could not be detected in two patients, although other patients carrying the same mutations had acroosteolysis. Additionally, none of the previously described hot spot mutations were seen in our cohort; indeed, L7P and R312X were the most frequently detected mutations.
conclusionsWe described a large cohort of pycnodysostosis patients with genetic and phenotypic features, and, first Alu sequence insertion in pycnodysostosis.
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