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

IF 1.5 Q4 GENETICS & HEREDITY
Journal of Community Genetics Pub Date : 2024-10-01 Epub Date: 2024-08-19 DOI:10.1007/s12687-024-00718-7
Augusto César Cardoso-Dos-Santos, Luiza Monteavaro Mariath, Franciele Trapp, Ana Carolina Brusius Facchin, Sandra Leistner, Francyne Kubaski, Roberto Giugliani, Lavinia Schuler-Faccini, Erlane Marques Ribeiro
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引用次数: 0

Abstract

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.

地理和社会人口因素对粘多糖病特征的重要性:塞阿拉州(巴西东北部)的病例系列。
地理和社会人口因素可能会影响粘多糖病(MPS)的自然史和流行病学。这项研究的主要目的是评估塞阿拉州(巴西东北部)人群中 MPS 的临床、分子和地理特征。为此,我们对 76 名 MPS 患者进行了临床评估、患者和/或家属访谈以及病历审查,并在此基础上开展了一项描述性横断面研究。MPS II 是最常见的类型,大多数患者出现错义致病变异。事实证明,MPS I 患者的临床表型最为严重,与其他类型的患者相比,他们最早出现症状(平均:7.1 个月;标准差 = 4.5),确诊时间也较早(2.2 年;标准差 = 2.1)。此外,我们还发现,13 名罹患 MPS VI 的患者出生在附近小城市的近亲结婚家庭,而该地区以前曾有过地理隔离、近亲结婚和遗传病聚集的报道。其中 10 人(至少 7 个不同的家庭)的 ARSB 基因出现了一种罕见的致病变异,即 c.1143-8T > G 的同源变异,此前只有伊比利亚和南美患者出现过这种变异。本文介绍的结果全面反映了巴西东北部一个重要州的 MPS 情况,该地区集中了许多导致罕见遗传病的风险因素,如近亲结婚、近亲繁殖和生殖隔离。我们讨论了可能的进化过程和生物社会动态,这有助于从群体医学遗传学和公共卫生的角度解释这一发现。
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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
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