Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness

Indian Pediatrics

Volumn 46, Issue 5, 2009, Pages 425-427

  Sethi, Sidharth Kumar ^a   Singh, Niranjan ^a   Gil, Helena ^b   Bagga, Arvind ^a  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^b HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

Author keywords

ATP6V1B1 gene; Renal tubular acidosis; Sensorineural deafness

Indexed keywords

CITRATE POTASSIUM; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATASE; ATP6V1B1 PROTEIN, HUMAN; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE;

ANAMNESIS; ARTICLE; ATP6V1B1 GENE; CASE REPORT; CHILD; CLINICAL FEATURE; COCHLEA; ELECTROENCEPHALOGRAM; EXON; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HEARING AID; HUMAN; KIDNEY TUBULE ACIDOSIS; NEPHRON; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PROTEIN FUNCTION; SPEECH THERAPY; BLOOD; GENETICS; INFANT;

ACIDOSIS, RENAL TUBULAR; CHILD, PRESCHOOL; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; PROTON-TRANSLOCATING ATPASES; VACUOLAR PROTON-TRANSLOCATING ATPASES;

EID: 66249118001     PISSN: 00196061     EISSN: 00196061     Source Type: Journal    
DOI: None     Document Type: Article

References (8)

1. Gil H, Santos F, García E, Alvarez MV, Ordóñez FA, Málaga S, et al. Distal RTA with nerve deafness: clinical spectrum and mutational analysis in five children. Pediatr Nephrol 2007; 22: 825-828.
2. Laing CM, Toye AM, Capasso G, Unwin RJ. Renal tubular acidosis: developments in our understanding of the molecular basis. Int J Biochem Cell Biol 2005; 37: 1151-1161. (Pubitemid 40381191)
3. Karet FE. Inherited distal renal tubular acidosis. J Am Soc Nephrol 2002; 13: 2178-2184.
4. Karet FE, Finberg KE, Nelson RD, Nayir A, Mocan H, Sanjad SA, et al. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet 1999; 21: 84-90.
5. Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, et al. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet 2002; 39: 796-803.
6. Sterkers O, Saumon G, Tran Ba Huy P, Ferrary E, Amiel C. Electrochemical heterogeneity of the cochlear endolymph: Effect of acetazolamide. Am J Physiol 1984; 246: F47-53. (Pubitemid 14148471)
7. Rodriguez-Soriano J, Vallo A, Castillo G, Oliveros R. Natural history of primary distal renal tubular acidosis treated since infancy. J Pediatr 1982; 101: 669-676.
8. World Health Organisation. Child growth standards. Available from: URL: http:// www.who.int/nutrition/media-page/en/. Accessed on 30 April 2008.