Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss
Article first published online: 10 MAY 2012
© 2012 John Wiley & Sons A/S
Volume 83, Issue 3, pages 274–278, March 2013
How to Cite
Mohebbi, N., Vargas-Poussou, R., Hegemann, S., Schuknecht, B., Kistler, A., Wüthrich, R. and Wagner, C. (2013), Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss. Clinical Genetics, 83: 274–278. doi: 10.1111/j.1399-0004.2012.01891.x
- Issue published online: 18 FEB 2013
- Article first published online: 10 MAY 2012
- Accepted manuscript online: 17 APR 2012 10:50AM EST
- Received 7 February 2012, revised and accepted for publication 11 April 2012
Fig. S1. Mutations in ATP6V1B1 in patients and their relatives. Control sequence shows an unrelated unaffected individual. (a) Sequencing data showed one homozygous ATP6V1B1 missense mutation in exon 3 (c.242T> C, p.Leu81Pro) and a second homozygous variant in exon 6 (c.481G> A, p.Glu161Lys) in index patient family 1. Direct Sequencing of exons 3 and 6 of the ATP6V1B1 gene showed that both parents are heterozygous for the mutation c.242T >C (p.Leu81Pro) in exon 3 and c.481G>A (p.Glu161Lys) in exon 6, respectively. (b) Heterozygous ATP6V1B1 missense mutations in exon 3 (c. 242T>C, p.Leu81Pro) were detected in one sister and the mother of the index patient family 2. The father and another sister showed a heterozygous mutation in exon 10 (c.1037C>G, p.Pro346Arg).
Fig. S2. Ultrasound examination of the right (a) and left (b) kidney of index patient II. Typical signs of nephrocalcinosis (hyperechoic renal medullary pyramids) are shown by ultrasound.
Table S1. Biochemical and clinical data of index patients.
Table S2. Biochemical and clinical data of patients' family members.
Table S3. Published disease-causing human mutations in ATP6V1B1
Appendix S1. Methods.
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