IDUA gene mutation analysis and prenatal diagnosis of two families affected with mucopolysaccharidosis type I / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 347-351, 2017.
Artigo
em Chinês
| WPRIM
| ID: wpr-335129
ABSTRACT
<p><b>OBJECTIVE</b>To analyze mutations of IDUA gene in two pedigrees affected with mucopolysaccharidosis type I and provide prenatal diagnosis for them.</p><p><b>METHODS</b>The 14 exons of the IDUA gene were subjected to PCR amplification and Sanger sequencing.</p><p><b>RESULTS</b>For pedigree 1, the proband was found to harbor compound heterozygous mutations c.46-57delTCGCTCCTGGCC (p.Ser16_Ala19del) of exon 1 and c.1147delC (p.Arg383Alafs*57) of exon 8 of the IDUA gene, which were inherited from his father and mother, respectively. The latter was unreported previously. Prenatal diagnosis suggested that the fetus has carried a heterozygous c.46-57delTCGCTCCTGGCC mutation. For family 2, the proband was also found to carry compound mutations of the IDUA gene, namely c.721T to C (p.Cys241Arg) of exon 6 and c.1491delG (p.Thr497fs27) of exon 8, which were inherited from her mother and father, respectively. Neither mutation was reported previously. Prenatal diagnosis suggested that the fetus has carried a heterozygous c.721T to C mutation.</p><p><b>CONCLUSION</b>Mutations of the IDUA gene probably underlie the MPS-I in both pedigrees. Above results have enriched the spectrum of IDUA gene mutations and facilitated prenatal diagnosis for both families.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Diagnóstico Pré-Natal
/
Análise Mutacional de DNA
/
Dados de Sequência Molecular
/
Sequência de Bases
/
China
/
Embriologia
/
Mucopolissacaridose I
/
Deleção de Sequência
/
Povo Asiático
Tipo de estudo:
Estudo diagnóstico
Limite:
Adulto
/
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Masculino
/
Gravidez
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2017
Tipo de documento:
Artigo
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