Mutation analysis for GJB2 and LOR genes in two patients with Vohwinkel syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 203-206, 2013.
Artigo
em Chinês
| WPRIM
| ID: wpr-237281
ABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutations of gap junction protein beta 2 (GJB2) and loricrin (LOR) genes in two patients with Vohwinkel syndrome.</p><p><b>METHODS</b>Polymerase chain reaction and DNA sequencing were used for detecting potential mutations in the GJB2 and LOR genes. Parents of one patient and 50 healthy individuals were used as controls.</p><p><b>RESULTS</b>A novel homozygous missense mutation (c.A796G) of LOR gene was detected in one patient. The same mutation was not found in the other patient, their relatives and the 50 healthy controls.</p><p><b>CONCLUSION</b>A missence mutation of LOR gene was detected in a patient with Vohwinkel syndrome.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Patologia
/
Anormalidades Múltiplas
/
Deformidades Congênitas da Mão
/
Análise de Sequência de DNA
/
Ceratodermia Palmar e Plantar
/
Conexinas
/
Mutação de Sentido Incorreto
/
Conexina 26
/
Genética
/
Perda Auditiva Neurossensorial
Limite:
Adulto
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2013
Tipo de documento:
Artigo
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