Arginase deficiency in Bulgaria: first cases and potential endemic region for the disorder.
J Genet
; 1022023.
Article
em En
| MEDLINE
| ID: mdl-36722221
ABSTRACT
Arginase deficiency is an autosomal recessive urea cycle disorder caused by pathogenic variants in the ARG1 gene. The clinical features of the disease include spasticity, tremour, ataxia, hypotonia, microcephaly and seizures. Growth delay can also be observed in the affected individuals. Here we describe the results from molecular-genetic analysis of two patients with arginase deficiency. In the first case, we reported a novel homozygous missense variant c.775G>A p.(Gly259Ser) in a patient with Bulgarian ethnic origin. In the second case, a novel homozygous splice site variant c.329+1G>A was detected in a patient from a consanguineous family of Roma ethnic origin. A hundred samples of newborns of Roma origin were screened for variant c.329+1G>A and one individual was found to be a heterozygous carrier of variant c.329+1G> A. The results from this study indicated the necessity for screening of the Roma population with respect to the disease arginase deficiency in Bulgaria.
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Base de dados:
MEDLINE
Assunto principal:
Hiperargininemia
País/Região como assunto:
Europa
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Bulgária