Document Detail


Novel ATP6V0A4 mutation described in a Tunisian patient with distal renal tubular acidosis.
MedLine Citation:
PMID:  22854161     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Few data regarding molecular diagnosis of primary distal renal tubular acidosis (DRTA) in Tunisian population are available. 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:  JOURNAL ARTICLE     Date:  2012-8-1
Journal Detail:
Title:  Clinical nephrology     Volume:  -     ISSN:  0301-0430     ISO Abbreviation:  Clin. Nephrol.     Publication Date:  2012 Aug 
Date Detail:
Created Date:  2012-8-2     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0364441     Medline TA:  Clin Nephrol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
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