@article{3129863,
    title = "Founder mutations in the ATP6V1B1 geneexplain most cypriot cases of distal renal tubular acidosis: First prenatal diagnosis",
    author = "Elia, A. and Voskarides, K. and Demosthenous, P. and Michalopoulou, A. and Malliarou, M.-A. and Georgaki, E. and Athanasiou, Y. and Patsias, C. and Pierides, A. and Deltas, C.",
    journal = "Nephron Clinical Practice",
    year = "2011",
    volume = "117",
    number = "3",
    pages = "c206-c212",
    issn = "0028-2766, 1660-2110",
    doi = "10.1159/000320192",
    keywords = "citrate potassium plus citrate sodium;  citrate sodium;  cysteine;  DNA;  guanine;  threonine, adult;  article;  atp6v1b1 gene;  child;  clinical article;  Cyprus;  disease association;  distal renal tubular acidosis;  DNA sequence;  female;  founder mutation;  gene;  genetics;  genotype phenotype correlation;  Greece;  heterozygosity;  human;  hypokalemia;  kidney calcification;  kidney tubule acidosis;  male;  mutation;  perception deafness;  polymerase chain reaction;  prenatal diagnosis;  preschool child;  priority journal;  restriction fragment length polymorphism;  rhabdomyolysis;  school child, Acidosis, Renal Tubular;  Adult;  Child;  Child, Preschool;  Cyprus;  Female;  Founder Effect;  Humans;  Infant;  Male;  Mutation;  Pregnancy;  Pregnancy Complications;  Prenatal Diagnosis;  Vacuolar Proton-Translocating ATPases;  Young Adult",
    abstract = "Aims: To investigate clinically and genetically all the distal renal tubular acidosis (dRTA) cases in Cyprus, to study one more family from Greece and to perform the first dRTA prenatal diagnosis. We also tried to find any association with sensorineural hearing loss (SNHL) onset and particular mutations. Methods: Nine dRTA families from Cyprus and one from Greece were analyzed for mutations in ATP6V1B1 gene by DNA resequencing and PCR-RFLPs. Clinical diagnosis was performed by standard criteria. Prenatal diagnosis was performed for one Cypriot family. Results: Results show that 7/9 dRTA cases in Cyprus are caused by 229+1G>T and R157C founder mutations in ATP6V1B1 gene. 229+1G>T mutation was estimated to be older than 400 years. No genotype- phenotype correlation was found with SNHL. A known (L81P) and a novel mutation (912delT) were found in the Greek family. Prenatal diagnosis was performed for one Cypriot family, after parents' demand, showing that the embryo was a heterozygous carrier. Conclusion: Existence of only two ATP6V1B1 mutations in the Cypriot population is a diagnostic advantage. The age of onset of SNHL varies in our patients and probably is not related to ATP6V1B1 genotypes. Effective therapy for most of the syndrome symptoms is not satisfactory for some parents who choose prenatal diagnosis to ensure their child's health. Copyright © 2010 S. Karger AG, Basel."
}