Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness.
Indian Pediatr
;
2009 May; 46(5): 425-427
Artigo
em Inglês
| IMSEAR
| ID: sea-144038
ABSTRACT
Distal renal tubular acidosis (RTA) with sensorineural deafness is a rare entity, inherited in an autosomal recessive manner. It is caused by mutations in the ATP6V1B1 gene, leading to defective function of H+-ATPase pump in the distal nephron, cochlea and endolymphatic sac. We report two siblings with distal RTA and sensorineural deafness having mutation C>T in the first coding exon of the gene, resulting in a non functional protein. The parents were found to be carriers for the mutation.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Acidose Tubular Renal
/
Feminino
/
Humanos
/
Pré-Escolar
/
ATPases Translocadoras de Prótons
/
ATPases Vacuolares Próton-Translocadoras
/
Perda Auditiva Neurossensorial
/
Lactente
Idioma:
Inglês
Revista:
Indian Pediatr
Ano de publicação:
2009
Tipo de documento:
Artigo
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