Analysis of AVPR2 gene mutation in a pedigree affected with congenital nephrogenic diabetes insipidus / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 666-669, 2016.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-345385
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutation in a pedigree affected with congenital nephrogenic diabetes insipidus (NDI).</p><p><b>METHODS</b>Clinical data of a male patient affected with NDI was collected. Genomic DNA was extracted from peripheral blood samples from the patient and five family members. The whole coding region of the arginine vasopressin receptor 2 (AVPR2) gene was amplified by PCR and directly sequenced.</p><p><b>RESULTS</b>The patient presented polyuria and polydipsia postnatally. Computerized tomography revealed bilateral hydronephrosis and hydroureter. The patient was responsive to hydrochlorothiazide but not to desmopressin. DNA analysis identified a hemizygous missence mutation c.295 T>C in exon 2 of the AVPR2 gene in the proband. His mother and grandmother were both heterozygous for the same mutation.</p><p><b>CONCLUSION</b>The congenital NDI in the patient was probably due to mutation of the AVPR2 gene.</p>
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Análise Mutacional de DNA
/
Sequência de Bases
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Éxons
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Saúde da Família
/
Receptores de Vasopressinas
/
Diabetes Insípido Nefrogênico
/
Predisposição Genética para Doença
/
Genética
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Adolescente
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2016
Tipo de documento:
Artigo