Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region.

Autor: Dos Santos-Lopes SS; Biology Department, Biology Department, State of Paraiba University, Campina Grande, Paraiba, Brazil., de Oliveira JMF; Biology Department, Biology Department, State of Paraiba University, Campina Grande, Paraiba, Brazil., de Queiroga Nascimento D; Biology Department, Biology Department, State of Paraiba University, Campina Grande, Paraiba, Brazil., Montenegro YHA; Biology Department, Biology Department, State of Paraiba University, Campina Grande, Paraiba, Brazil., Leistner-Segal S; National Institute of Populational Medical Genetics-INAGEMP, Porto Alegre, Rio Grande do Sul, Brazil.; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil., Brusius-Facchin AC; National Institute of Populational Medical Genetics-INAGEMP, Porto Alegre, Rio Grande do Sul, Brazil.; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil., Eufrazino Gondim C; Alcides Carneiro University Hospital - HUAC, Federal University of Campina Grande, Campina Grande, Paraiba, Brazil., Giugliani R; National Institute of Populational Medical Genetics-INAGEMP, Porto Alegre, Rio Grande do Sul, Brazil.; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.; Department of Genetics, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil., de Medeiros PFV; Alcides Carneiro University Hospital - HUAC, Federal University of Campina Grande, Campina Grande, Paraiba, Brazil.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Oct; Vol. 185 (10), pp. 2929-2940. Date of Electronic Publication: 2021 Jun 02.
DOI: 10.1002/ajmg.a.62375
Abstrakt: Mucopolysaccharidosis (MPS) IVA is a rare autosomal recessive disease with a highly variable distribution worldwide. Discrepancies in the incidence of MPS IVA among populations of different ethnicities are mostly attributed to founder effects. Demographic and clinical data from 28 MPS IVA patients, followed at a single center, and ancestry (Y chromosome and mitochondrial markers) of a subsample of 17 patients, most with the p.Ser341Arg (c.1023C>G) mutation were analyzed. Parental consanguinity was observed in 15/20 couples; a rare homozygous N-acetylgalactosamine-6-sulfatase (GALNS) mutation was found in 7/16 families with intra-familial phenotypic heterogeneity. Paternal ancestry was 94.2% (16/17) European, 5.8% (1/17) African, and 0% Amerindian. The European paternal haplogroups R1a, R1b, and R* accounted for 94.2% (16/17) of the patients. The R1b haplogroup, identified in 59% (10/17) of the patients, is frequently found in populations from the Iberian Peninsula. European, Amerindian, and African maternal ancestry was observed in 46.9% (8/17), 35.4% (6/17), and 17.7% (3/17) of the patients, respectively. Study of a cluster of MPS IVA patients from Northeastern Brazil, with high parental consanguinity and phenotypic heterogeneity showed predominantly European parental ancestry. This ancestry finding corroborates historical data on the local settlement, formed predominantly by European men.
(© 2021 Wiley Periodicals LLC.)
Databáze: MEDLINE
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