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Am J Med Genet A ; 185(10): 2929-2940, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34076347

RESUMO

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.


Assuntos
Condroitina Sulfatases/genética , Heterogeneidade Genética , Haplótipos/genética , Mucopolissacaridose IV/genética , Adolescente , Adulto , Sequência de Aminoácidos/genética , População Negra/genética , Brasil/epidemiologia , Criança , Cromossomos Humanos Y , Consanguinidade , DNA Mitocondrial/genética , Demografia/estatística & dados numéricos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mucopolissacaridose IV/epidemiologia , Mucopolissacaridose IV/patologia , Mutação de Sentido Incorreto , Adulto Jovem
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