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Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss.
Clin Genet 2013; 83(3):274-8CG

Abstract

Distal renal tubular acidosis (dRTA) is characterized by the inability to excrete acid in the renal collecting ducts resulting in inappropriately alkaline urine and hyperchloremic (normal anion gap) metabolic acidosis in the context of a normal (or near-normal) glomerular filtration rate. Inborn dRTA can be due to autosomal dominant or recessive gene defects. Clinical symptoms vary from mild acidosis, incidental detection of kidney stones or renal tract calcification to severe findings such as failure to thrive, severe metabolic acidosis, and nephrocalcinosis. The majority of patients with recessive dRTA present with sensorineural hearing loss (SNHL). Few cases with abnormal widening of the vestibular aqueduct have been described with dRTA. Mutations in three different genes have been identified, namely SLC4A1, ATP6V1B1, and ATP6V0A4. Patients with mutations in the ATP6V1B1 proton pump subunit develop dRTA and in most of the cases sensorineural hearing loss early in childhood. We present two patients from two different and non-consanguineous families with dRTA and SNHL. Direct sequencing of the ATP6V1B1 gene revealed that one patient harbors two homozygous mutations and the other one is a compound heterozygous. To our knowledge, this is the first case in the literature describing homozygosity in the same dRTA gene on both alleles.

Authors+Show Affiliations

Institute of Physiology and Zurich Center for Integrative Human Physiology (ZIHP), University of Zurich, Zurich, Switzerland. nmohebbi@access.uzh.chNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22509993

Citation

Mohebbi, N, et al. "Homozygous and Compound Heterozygous Mutations in the ATP6V1B1 Gene in Patients With Renal Tubular Acidosis and Sensorineural Hearing Loss." Clinical Genetics, vol. 83, no. 3, 2013, pp. 274-8.
Mohebbi N, Vargas-Poussou R, Hegemann SC, et al. Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss. Clin Genet. 2013;83(3):274-8.
Mohebbi, N., Vargas-Poussou, R., Hegemann, S. C., Schuknecht, B., Kistler, A. D., Wüthrich, R. P., & Wagner, C. A. (2013). Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss. Clinical Genetics, 83(3), pp. 274-8. doi:10.1111/j.1399-0004.2012.01891.x.
Mohebbi N, et al. Homozygous and Compound Heterozygous Mutations in the ATP6V1B1 Gene in Patients With Renal Tubular Acidosis and Sensorineural Hearing Loss. Clin Genet. 2013;83(3):274-8. PubMed PMID: 22509993.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss. AU - Mohebbi,N, AU - Vargas-Poussou,R, AU - Hegemann,S C A, AU - Schuknecht,B, AU - Kistler,A D, AU - Wüthrich,R P, AU - Wagner,C A, Y1 - 2012/05/11/ PY - 2012/4/19/entrez PY - 2012/4/19/pubmed PY - 2013/8/28/medline SP - 274 EP - 8 JF - Clinical genetics JO - Clin. Genet. VL - 83 IS - 3 N2 - Distal renal tubular acidosis (dRTA) is characterized by the inability to excrete acid in the renal collecting ducts resulting in inappropriately alkaline urine and hyperchloremic (normal anion gap) metabolic acidosis in the context of a normal (or near-normal) glomerular filtration rate. Inborn dRTA can be due to autosomal dominant or recessive gene defects. Clinical symptoms vary from mild acidosis, incidental detection of kidney stones or renal tract calcification to severe findings such as failure to thrive, severe metabolic acidosis, and nephrocalcinosis. The majority of patients with recessive dRTA present with sensorineural hearing loss (SNHL). Few cases with abnormal widening of the vestibular aqueduct have been described with dRTA. Mutations in three different genes have been identified, namely SLC4A1, ATP6V1B1, and ATP6V0A4. Patients with mutations in the ATP6V1B1 proton pump subunit develop dRTA and in most of the cases sensorineural hearing loss early in childhood. We present two patients from two different and non-consanguineous families with dRTA and SNHL. Direct sequencing of the ATP6V1B1 gene revealed that one patient harbors two homozygous mutations and the other one is a compound heterozygous. To our knowledge, this is the first case in the literature describing homozygosity in the same dRTA gene on both alleles. SN - 1399-0004 UR - https://www.unboundmedicine.com/medline/citation/22509993/Homozygous_and_compound_heterozygous_mutations_in_the_ATP6V1B1_gene_in_patients_with_renal_tubular_acidosis_and_sensorineural_hearing_loss_ L2 - https://doi.org/10.1111/j.1399-0004.2012.01891.x DB - PRIME DP - Unbound Medicine ER -