The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil).

Autor: Cardoso-Dos-Santos AC; Instituto Nacional de Ciência e Tecnologia de Genética Médica Populacional (INaGeMP), Porto Alegre, RS, Brazil.; Postgraduate Program in Genetics and Molecular Biology, Department of Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil., Mariath LM; Instituto Nacional de Ciência e Tecnologia de Genética Médica Populacional (INaGeMP), Porto Alegre, RS, Brazil.; Postgraduate Program in Genetics and Molecular Biology, Department of Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil., Trapp F; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, RS, Brazil., Facchin ACB; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, RS, Brazil., Leistner S; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, RS, Brazil., Kubaski F; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; Greenwood Genetic Center, Biochemical Genetics Laboratory, Greenwood, USA., Giugliani R; Instituto Nacional de Ciência e Tecnologia de Genética Médica Populacional (INaGeMP), Porto Alegre, RS, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, RS, Brazil., Schuler-Faccini L; Instituto Nacional de Ciência e Tecnologia de Genética Médica Populacional (INaGeMP), Porto Alegre, RS, Brazil. lavinia.faccini@ufrgs.br.; Postgraduate Program in Genetics and Molecular Biology, Department of Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil. lavinia.faccini@ufrgs.br.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil. lavinia.faccini@ufrgs.br.; Departamento de Genética, Universidade Federal do Rio Grande do Sul (UFRGS), Av. Bento Gonçalves, Campus do Vale, Porto Alegre, RS, 95000, CEP: 91501-970, Brazil. lavinia.faccini@ufrgs.br., Ribeiro EM; Medical Genetics Service, Hospital Infantil Albert Sabin, Fortaleza, CE, Brazil. erlaneribeiro@yahoo.com.br.; Faculdade de Medicina, Centro Universitário Christus (Unichristus), Fortaleza, CE, Brazil. erlaneribeiro@yahoo.com.br.; Curso de Medicina, Centro Universitário Christus (UNICHRISTUS), Rua João Adolfo Gurgel, 133, Fortaleza, CE, CEP: 60192-345, Brazil. erlaneribeiro@yahoo.com.br.
Jazyk: angličtina
Zdroj: Journal of community genetics [J Community Genet] 2024 Oct; Vol. 15 (5), pp. 573-580. Date of Electronic Publication: 2024 Aug 19.
DOI: 10.1007/s12687-024-00718-7
Abstrakt: Geographic and sociodemographic aspects may influence the natural history and epidemiology of mucopolysaccharidoses (MPS). The main objective in this work was to evaluate the clinical, molecular, and geographic profile of MPS in a population from Ceará (Northeast Brazil). For this, we have performed a descriptive cross-sectional study based on clinical evaluation, interviews with patients and/or family members, and review of medical records of 76 MPS patients. MPS II was the most common type, with the most affected individuals presenting missense pathogenic variants. Patients with MPS I proved to be the most severe clinical phenotype, presenting the first symptoms (mean: 7.1 months; SD = 4.5) and being diagnosed earlier (2.2 years; SD = 2.1) in comparison with the other types. In addition, we have shown that 13 individuals with MPS VI were born of consanguineous marriages in small, nearby cities, in a place where geographical isolation, consanguinity, and clusters of genetic diseases were previously reported. Ten of these individuals (at least, seven different families) presented a rare pathogenic variant in the ARSB gene, c.1143-8T > G in homozygosity, previously reported only among Iberian and South American patients. The results presented here provide a comprehensive picture of MPS in an important state of the Brazilian Northeast, a region that concentrates many risk factors for rare genetic diseases, such as endogamy, inbreeding, and reproductive isolation. We discuss the possible evolutionary processes and biosocial dynamics that can help to explain this finding in terms of population medical genetics and public health.
(© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Databáze: MEDLINE
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