A Novel Mutation (p.Met1?) of a Cuban Patient in the NAGLU Gene with Mucopolysaccharidosis IIIB
J. inborn errors metab. screen
; 9: e20210013, 2021. tab, graf
Artigo
em Inglês
|
LILACS-Express
| LILACS
| ID: biblio-1287001
Biblioteca responsável:
BR1.1
ABSTRACT
Abstract Mucopolysaccharidosis III (MPSIII) or Sanfilippo syndrome is an autosomal recessive disorder of lysosomal metabolism. MPS III is caused by mutations in genes that encode for the enzymes involved in the degradation of heparan sulfate. It is classified into 4 subtypes (MPSIII A-D). MPS IIIB is induced by mutations in the gene encoding the alpha-N-acetylglucosaminidase enzyme. We report a 6-year-old boy with phenotypic findings of Sanfilippo syndrome type B, such as mild coarse facie, clear corneas, hirsutism, hepatomegaly, mild joint stiffness and mild dysostosis multiplex. He also presents frequent upper respiratory infections, bilateral hearing loss, sleep disturbances, progressive neurologic deterioration and behavioral problems. He is compound heterozygous for the NAGLU gene (c.503G˃A; p.Trp168Ter/ c.3G˃A; p.met1?). One of the mutation was described in two patients before. A novel pathogenic variant was detected.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
País/Região como assunto:
Cuba
Idioma:
Inglês
Revista:
J. inborn errors metab. screen
Assunto da revista:
Medicina Cl¡nica
/
Patologia
Ano de publicação:
2021
Tipo de documento:
Artigo
País de afiliação:
Cuba
Instituição/País de afiliação:
Centro Internacional de Restauración Neurológica/CU
/
Centro Nacional de Genética Médica/CU