ArticleEuropean journal of medical research2016
Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.
Article in European journal of medical research, 2016. 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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12 citing papers in PubMed, 23 citations in OpenAlex.
- From genotype to phenotype: the impact of early management in pycnodysostosis.Endocrinology, diabetes & metabolism case reports · 2025Article
- Case Report: A Novel Homozygous Variant of theInternational journal of molecular sciences · 2024Article
- The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil).Journal of community genetics · 2024Article
- Case report: a giant cell-rich gnathic bone lesion in a child with pycnodysostosis.Frontiers in oral health · 2023Article
- Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene.Molecular genetics & genomic medicine · 2022Article
- Article
- Skeletal dysplasias in Latin America.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Review
- 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
- Genetics of Osteopetrosis.Current osteoporosis reports · 2018Review
- Pycnodysostosis- a rare disorder with distinctive craniofacial dysmorphia. A case report.Journal of oral biology and craniofacial researchArticle
- PYKNODYSOSTOSIS (OSTEOPETROSIS ACRO-OSTEOLYTICA).AACE clinical case reportsArticle
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12 authors at 7 institutions in 1 country.
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Abstract
backgroundPycnodysostosis is an autosomal recessive skeletal dysplasia, the prevalence of which is estimated to be low (1 per million). Nevertheless, in recent years we have found 27 affected individuals from 22 families in Ceará State, a region of the Brazilian Northeast, giving a local prevalence of 3 per million. This local prevalence associated with a high parental consanguinity, suggesting a possible founder effect, prompted us to perform a molecular investigation of these families to test this hypothesis.
methodsThe CTSK gene was sequenced by the Sanger method in the patients and their parents. In addition to 18 families from Ceará, this study also included 15 families from other Brazilian regions. We also investigated the origin of each family from the birthplace of the parents and/or grandparents.
resultsWe have studied 39 patients, including 33 probands and 6 sibs, from 33 families with pycnodysostosis and identified six mutations, five previously described (c.436G>C, c.580G>A, c.721C>T, c.830C>T and c.953G>A) and one novel frameshift (c.83dupT). This frameshift variant seems to have a single origin in Ceará State, since the haplotype study using the polymorphic markers D1S2344, D1S442, D1S498 and D1S2715 suggested a common origin. Most of the mutations were found in homozygosity in the patients from Ceará (83.3 %) while in other states the mutations were found in homozygosity in half of patients. We have also shown that most of the families currently living outside of Ceará have northeastern ancestors, suggesting a dispersion of these mutations from the Brazilian Northeast.
conclusionsThe high frequency of pycnodysostosis in Ceará State is the consequence of the high inbreeding in that region. Several mutations, probably introduced a long time ago in Ceará, must have spread due to consanguineous marriages and internal population migration. However, the novel mutation seems to have a single origin in Ceará, suggestive of a founder effect.
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