Analysis of phenotype and genotype in a family with late infantile metachromatic leukodystrophy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 615-618, 2014.
Artigo
em Chinês
| WPRIM
| ID: wpr-291717
ABSTRACT
<p><b>OBJECTIVE</b>To study genotype-phenotype correlation of a family with late infantile metachromatic leukodystrophy(MLD).</p><p><b>METHODS</b>Clinical data were collected and ARSA gene was tested by PCR and sequencing in a pedigree.</p><p><b>RESULTS</b>The male proband onset with walking dysfunction at 19 months, arylsulfatase A activity of leucocyte from his peripheral blood was 20.2 nmol/mg.17h, and his cranial MRI showed wildly symmetrical demyelination. Homozygosis for novel c.622delC (p.His208Metfs46X) in exon 3 of ARSA gene was identified in proband, and heterozygous for the same mutation in parents and grandma of the proband.</p><p><b>CONCLUSION</b>Late infantile metachromatic leukodystrophy is characterized by rapid and progressive regression of neuropsychiatric and motor development. There is a significant correlation between the mutation of c.622delC(p.His208Metfs*46) in the ARSA gene and the phenotype presenting as O/O patients.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Fenótipo
/
Diagnóstico por Imagem
/
Análise Mutacional de DNA
/
Imageamento por Ressonância Magnética
/
Sequência de Bases
/
Radiografia
/
Cerebrosídeo Sulfatase
/
Reação em Cadeia da Polimerase
/
Saúde da Família
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Feminino
/
Humanos
/
Lactente
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2014
Tipo de documento:
Artigo
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