Renal tubular acidosis with deafness
OMIM:267300Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the genitourinary system
Mutations
Gene Symbol | ATP6V1B1 |
---|---|
Reference transcript | NM_001692.3 |
DNA Change | c.1155_1156insC |
A.A. Change | p.I386fsX441 |
Exon/Intron | exon 12 |
Mutation Type | insertion |
Reference | Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, Giersch AB, 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, Li Volti G, Mir S, Mocan H, Nayir A, Ozen S, Rodriguez Soriano J, Sanjad SA, Tasic V, Taylor CM, Topaloglu R, Smith AN, Karet FE.Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet. 2002 Nov;39(11):796-803. |
Gene Symbol | ATP6V1B1 |
---|---|
Reference transcript | NM_001692.3 |
DNA Change | c.1169dupC |
A.A. Change | p.Ser391Phefs*51 |
Exon/Intron | exon 11 |
Mutation Type | duplication |
Reference | Boualla L, Jdioui W, Soulami K, Ratbi I, Sefiani A.
Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: Report of a novel mutation of ATP6V1B1 gene. Curr Res Transl Med. 2016 Jan-Mar;64(1):5-8. doi: 10.1016/j.retram.2016.01.005. Epub 2016 Feb 11. |