ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families
Tarih
2013-10Yazar
Subaşıoğlu Uzak, Aslı
Çakar, Nilgün
Çomak, Elif
Yalçınkaya, Fatoş
Tekin, Mustafa
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Distal renal tubular acidosis (DRTA) is characterized by tubular defects in urinary acidification
and hyperchloremic metabolic acidosis, hypokalemia, hypercalciuria, hypocitraturia,
nephrocalcinosis and nephrolithiasis. Mutations in ATP6V1B1 cause DRTA associated with
sensorineural hearing loss. The objective of this multicenter study is to screen DRTA patients with
sensorineural hearing loss for ATP6V1B1 gene mutations and present genotype/phenotype
correlation. Clinical data in five unrelated consanguineous families with DRTA and hearing loss
were obtained in Turkey. For mutation screening, all coding exons of ATP6V1B1 were PCR
amplified and sequenced from genomic DNA. In our cohort of five families, there were four
different homozygous ATP6V1B1 mutations in affected individuals: c.91C4T (p.R31X), c.
232G4A (p.G78R), c.497delC (p.T166RfsX9) and c.1155dupC (p.I386HfsX56). Our study shows
that rare and family-specific variants in ATP6V1B1 are responsible for DRTA and sensorineural
hearing loss syndrome in Turkey. While firm genotype–phenotype correlations are not available,
detailed clinical and molecular analyses provide data to be used in genetic counseling.
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