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Analysis of clinical features and GALNS gene mutation in a patient with mucopolysaccharidosis type IV A / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 232-235, 2017.
Artigo em Chinês | WPRIM | ID: wpr-335148
ABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutation of galactosamine-6-sulfate (GALNS) gene in a Chinese girl affected with mucopolysaccharidosis type IV A (Morquio A syndrome).</p><p><b>METHODS</b>The patient was diagnosed by assaying the activities of mucopolysaccharidosis-related enzymes in leukocytes. Potential mutation in the GALNS gene was detected with PCR and Sanger sequencing.</p><p><b>RESULTS</b>The patient was characterized by short stature, skeletal deformities, normal intelligence, and auditory dysfunction. The activities of GALNS enzymes were low. A compound heterozygous missense mutation, c.1094G>T (p.Gly365Val)/c.938C>T (p.Thr313Met), was detected in the GALNS gene. The mutations were respectively inherited from her father and mother. Among them, the c.1094G>T (p.Gly365Val) mutation was not reported previously.</p><p><b>CONCLUSION</b>The mutations c.1094G>T (p.Gly365Val)/c.938C>T (p.Thr313Met) probably underlie the pathogenesis of the disease in our patient.</p>
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Dados de Sequência Molecular / Sequência de Bases / Condroitina Sulfatases / Mucopolissacaridose IV / Mutação Puntual / Genética Limite: Adulto / Criança / Criança, pré-escolar / Feminino / Humanos / Masculino Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2017 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Dados de Sequência Molecular / Sequência de Bases / Condroitina Sulfatases / Mucopolissacaridose IV / Mutação Puntual / Genética Limite: Adulto / Criança / Criança, pré-escolar / Feminino / Humanos / Masculino Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2017 Tipo de documento: Artigo