Document Detail


Novel ATP6V0A4 mutation described in a Tunisian patient with distal renal tubular acidosis.
MedLine Citation:
PMID:  22854161     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
CASE REPORT: 25-day-old male patient from consanguineous parents of Tunisian origin diagnosed with DRTA and without hearing impairment observed later in life. ATP6V0A4 gene sequencing demonstrated a novel homozygous G deletion in exon 13 (c.1221delG, p.Met408CysfsX10), leading to a premature stop codon.
CONCLUSION: A novel ATP6V0A4 gene mutation confirmed autosomal recessive DRTA with normal hearing in the patient. Molecular analysis may help to rapidly diagnose autosomal recessive DRTA in Tunisian population.
Authors:
Donia El Hayek; Hassan Bouzidi; Gustavo Pérez de Nanclares; Habib Soua; Jemni Ben Chibani; Gema Ariceta; Luis Castaño; Amel Haj Khelil
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical nephrology     Volume:  81     ISSN:  0301-0430     ISO Abbreviation:  Clin. Nephrol.     Publication Date:  2014 Feb 
Date Detail:
Created Date:  2014-01-09     Completed Date:  2014-03-27     Revised Date:  2014-07-31    
Medline Journal Info:
Nlm Unique ID:  0364441     Medline TA:  Clin Nephrol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  142-5     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Acidosis, Renal Tubular / enzymology,  genetics*,  physiopathology,  therapy
Adult
Base Sequence
Codon, Nonsense*
DNA Mutational Analysis
Exons
Genetic Predisposition to Disease
Hearing
Homozygote
Humans
Male
Molecular Sequence Data
Phenotype
Tunisia
Vacuolar Proton-Translocating ATPases / genetics*
Chemical
Reg. No./Substance:
0/Codon, Nonsense; EC 3.6.1.-/ATP6V0A4 protein, human; EC 3.6.1.-/Vacuolar Proton-Translocating ATPases

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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