{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:39:12Z","timestamp":1760146752048,"version":"build-2065373602"},"reference-count":12,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2024,12,4]],"date-time":"2024-12-04T00:00:00Z","timestamp":1733270400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of Science and Higher Education of the Russian Federation","award":["075-15-2021-1061","RF 193021X0029"],"award-info":[{"award-number":["075-15-2021-1061","RF 193021X0029"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Pycnodysostosis (PD) is a rare autosomal recessive skeletal dysplasia from impaired bone resorption due to osteoclastic dysfunction. The features of PD are deformity of the skull, maxilla, and phalanges; osteosclerosis; and bone fragility. We describe the case of a patient with complaints of multiple fractures of the lower extremities in the anamnesis and pain in the lower extremities, cervical spine, and shoulder girdle during physical exertion. Genetic testing revealed a novel homozygous variant c.704T&gt;C (p.Leu235Pro) in the CTSK gene. Biallelic pathogenic variants in this gene lead to PD. Thus, the diagnosis in the patient was established by finding a novel likely pathogenic variant in the CTSK gene.<\/jats:p>","DOI":"10.3390\/ijms252313025","type":"journal-article","created":{"date-parts":[[2024,12,4]],"date-time":"2024-12-04T04:47:22Z","timestamp":1733287642000},"page":"13025","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: A Novel Homozygous Variant of the CTSK Gene in Rare Pycnodysostosis"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6848-7749","authenticated-orcid":false,"given":"Irina Zhargalovna","family":"Zhalsanova","sequence":"first","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1338-5451","authenticated-orcid":false,"given":"Elizaveta Alekseevna","family":"Fonova","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nail Raushanovich","family":"Valiakhmetov","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8855-577X","authenticated-orcid":false,"given":"Nikita Aleksandrovich","family":"Kolesnikov","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-6823-9441","authenticated-orcid":false,"given":"Sofia Nikolaevna","family":"Gosudarkina","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna Aleksandrovna","family":"Agafonova","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ekaterina Georgievna","family":"Ravzhaeva","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gulnara Narimanovna","family":"Seitova","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5166-331X","authenticated-orcid":false,"given":"Vadim Anatolyevich","family":"Stepanov","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2491-3141","authenticated-orcid":false,"given":"Nikolay Alekseevich","family":"Skryabin","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,12,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1186\/s40001-016-0228-7","article-title":"Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region","volume":"21","author":"Araujo","year":"2016","journal-title":"Eur. J. Med. Res."},{"key":"ref_2","first-page":"999","article-title":"Pycnodysostosis","volume":"70","author":"Maroteaux","year":"1962","journal-title":"Presse Med."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1126\/science.273.5279.1236","article-title":"Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency","volume":"273","author":"Gelb","year":"1996","journal-title":"Science"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1210\/er.2006-0029","article-title":"Insights into material and structural basis of bone fragility from diseases associated with fractures: How determinants of the biomechanical properties of bone are compromised by disease","volume":"28","author":"Chavassieux","year":"2007","journal-title":"Endocr. Rev."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"D835","DOI":"10.1093\/nar\/gkz972","article-title":"ClinVar: Improvements to accessing data","volume":"48","author":"Landrum","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"2393","DOI":"10.1002\/ajmg.a.61366","article-title":"Nosology and classification of genetic skeletal disorders: 2019 revision","volume":"179","author":"Mortier","year":"2019","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1111\/cge.13591","article-title":"Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review","volume":"96","author":"Bizaoui","year":"2019","journal-title":"Clin. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/1750-1172-6-20","article-title":"Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011","volume":"6","author":"Xue","year":"2011","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1002\/humu.9490","article-title":"Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis","volume":"28","author":"Donnarumma","year":"2007","journal-title":"Hum. Mutat."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1038\/sj.ejhg.5200481","article-title":"Cathepsin K gene mutations and 1q21 haplotypes in patients with pycnodysostosis in an outbred population","volume":"8","author":"Haagerup","year":"2000","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1016\/j.mjafi.2014.11.001","article-title":"Pycnodysostosis: A rare cause of short stature","volume":"71","author":"Rajan","year":"2015","journal-title":"Med. J. Armed Forces India"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1002\/pro.3290","article-title":"Clustal Omega for making accurate alignments of many protein sequences","volume":"27","author":"Sievers","year":"2018","journal-title":"Protein Sci."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/25\/23\/13025\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T16:46:27Z","timestamp":1760114787000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/25\/23\/13025"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,4]]},"references-count":12,"journal-issue":{"issue":"23","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["ijms252313025"],"URL":"https:\/\/doi.org\/10.3390\/ijms252313025","relation":{},"ISSN":["1422-0067"],"issn-type":[{"type":"electronic","value":"1422-0067"}],"subject":[],"published":{"date-parts":[[2024,12,4]]}}}