ArticleBMC medical genetics2009
A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin.
Article in BMC medical genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 28 citations in OpenAlex.
- Pycnodysostosis: a case series of eight Saudi patients with cathepsin K gene mutation and a literature review.Frontiers in endocrinology · 2025Review
- A First-Case Report of Pycnodysostosis in an Omani Boy.Journal of pediatric genetics · 2022Article
- Whole-exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis.Molecular genetics & genomic medicine · 2020Article
- Clinical and radiological findings in a severe case of cleidocranial dysplasia.BMJ case reports · 2018Article
- 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
- Atypical femur fractures in a patient with pycnodysostosis: a case report.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2015Article
- Effect of Growth Hormone treatment on Height Velocity of Children with Pycnodysotosis.Iranian journal of pediatrics · 2014Article
- Pycnodysostosis with novel gene mutation and severe obstructive sleep apnoea: management of a complex case.BMJ case reports · 2013Article
- A child with bone fractures and dysmorphic features: remember of pycnodysostosis and craniosynostosis.BMJ case reports · 2012Article
- Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis.Molecular syndromology · 2012Article
- Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011.Orphanet journal of rare diseases · 2011Review
- Accordion Maneuver with Modified Ilizarov Frame for treatment of recalcitrant nonunion of shaft of femur in a patient with Pycnodysostosis.Journal of clinical orthopaedics and traumaArticle
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, osteosclerosis, acro-osteolysis, frequent fractures and skull deformities. Mutations in the gene encoding cathepsin K (CTSK), a lysosomal cysteine protease, have been found to be responsible for this disease.
objectivesTo identify pathogenic mutation in a consanguineous Pakistani family with 3 affected individuals demonstrating autosomal recessive pycnodysostosis.
methodsGenotyping of 10 members of the family, including three affected and seven unaffected individuals was carried out by using polymorphic markers D1S442, D1S498, and D1S305, which are closely linked to the CTSK gene on chromosome 1q21. To screen for mutations in the CTSK gene, all of its exons and splice junctions were PCR amplified from genomic DNA and sequenced directly in an ABI Prism 310 automated sequencer.
resultsGenotyping results showed linkage of the pycnodysostosis Pakistani family to the CTSK locus. Sequence analysis of the CTSK gene revealed homozygosity for a missense mutation (A277V) in the affected individuals.
conclusionWe describe a missense mutation in the CTSK gene in a Pakistani family affected with autosomal recessive pycnodysostosis. Our study strengthens the role of this particular mutation in the pathogenesis of pycnodysostosis and suggests its prevalence in Pakistani patients.
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