A novel homozygous mutation in PLA2G6 gene causes infantile neuroaxonal dystrophy in a case / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 64-67, 2016.
Artigo
em Chinês
| WPRIM
| ID: wpr-247734
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the clinical symptoms and potential mutations in the PLA2G6 gene for a child with infantile neuroaxonal dystrophy.</p><p><b>METHODS</b>Clinical data of the patient was collected. The coding regions of PLA2G6 gene was subjected to Sanger sequencing using blood DNA from the patient and her parents.</p><p><b>RESULTS</b>The patient has presented with psychomotor regression and hypotonia, followed by development of tetraparesis. A novel homozygous mutation G68A in the PLA2G6 gene was found by DNA sequencing, while her parents were both heterozygous carriers.</p><p><b>CONCLUSION</b>The psychomotor regression and tetraparesis of the patient was caused by infantile neuroaxonal dystrophy due to a novel homozygous mutation in the PLA2G6 gene, which was inherited from her parents.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Encéfalo
/
Diagnóstico por Imagem
/
Análise Mutacional de DNA
/
Imageamento por Ressonância Magnética
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Radiografia
/
Distrofias Neuroaxonais
/
Fosfolipases A2 do Grupo VI
/
Genética
Tipo de estudo:
Estudo diagnóstico
/
Estudo de etiologia
Limite:
Adulto
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2016
Tipo de documento:
Artigo
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