Mutation analysis of ATP6V0A4 and ATP6V1B1 gene in autosomal recessive distal renal tubular acidosis children

GAO Yan-xia;DOU Yi-he;SUI Ai-hua;LANG Ｙan-hua;SHAO Le-ping.

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Chinese Journal of Nephrology
Chinese Journal of Nephrology ›› 2012, Vol. 28 ›› Issue (1) : 1-4.
临床研究

Mutation analysis of ATP6V0A4 and ATP6V1B1 gene in autosomal recessive distal renal tubular acidosis children

  • GAO Yan-xia, DOU Yi-he, SUI Ai-hua, LANG Ｙan-hua, SHAO Le-ping.
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Abstract

Objective To analyze and identify the mutations of ATP6V0A4 and ATP6V1B1 gene in autosomal recessive distal renal tubular acidosis (rdRTA) children, and study the association of genotype and phenotype. Methods Genome DNA was amplified by PCR. Mutations of ATP6V0A4 and ATP6V1B1 gene in 3 children from 3 families were examined by direct sequencing. One hundred unrelated healthy subjects were selected to evaluate all mutations found in this study. Results A novel homozygous nonsense mutation was identified in ATP6V0A4 gene in one child, and a novel heterozygous nonsense variant and a frame-shift alteration were found in another child. No mutation of both genes was found in the third child. Conclusions Study of mutant genes of rdRTA in Chinese patients is helpful to understand the association in genotype and phenotype and increase the level of cognition and treatment to this disease.

Key words

Renal tubular acidosis / distal / Mutation / ATP6V0A4 / ATP6V1B1

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GAO Yan-xia;DOU Yi-he;SUI Ai-hua;LANG Ｙan-hua;SHAO Le-ping.. Mutation analysis of ATP6V0A4 and ATP6V1B1 gene in autosomal recessive distal renal tubular acidosis children [J]. Chinese Journal of Nephrology, 2012, 28(1): 1-4.

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