Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

Stover, EH; Borthwick, KJ; Bavalia, C; Eady, N; Fritz, DM; Rungroj, N; Giersch, ABS; Morton, CC; Axon, PR; Akil, I; Al-Sabban, EA; Baguley, DM; Bianca, S; Bakkaloglu, A; Bircan, Z; Chauveau, D; Clermont, MJ; Guala, A; Hulton, SA; Kroes, H; Volti, GL; Mir, S; Mocan, H; NAYIR, Ahmet; Ozen, S; Soriano, JR; Sanjad, SA; Tasic, V; Taylor, CM; Topaloglu, R; Smith, AN; Karet, FE

doi:10.1136/jmg.39.11.796

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

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Stover E., Borthwick K., Bavalia C., Eady N., Fritz D., Rungroj N., ...More

JOURNAL OF MEDICAL GENETICS, vol.39, no.11, pp.796-803, 2002 (SCI-Expanded)

Publication Type: Article / Article
Volume: 39 Issue: 11
Publication Date: 2002
Doi Number: 10.1136/jmg.39.11.796
Journal Name: JOURNAL OF MEDICAL GENETICS
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.796-803
Istanbul University Affiliated: No

Abstract

Autosomal recessive distal renal tubular acidosis (rdRTA) is characterised by severe hyperchloraemic metabolic acidosis in childhood, hypokolaemia, decreased urinary calcium solubility, and impaired bone physiology and growth. Two types of rdRTA have been differentiated by the presence or absence of sensorineural hearing loss, but appear otherwise clinically similar. Recently, we identified mutations in genes encoding two different subunits of the renal alpha-intercalated cell's apical H+-ATPase that cause rdRTA. Defects in the B I subunit gene ATP6V1B1, and the a4 subunit gene ATP6V0A4, cause rdRTA with deafness and with preserved hearing, respectively.