This document summarizes a study that identified a common molecular basis for three inherited kidney stone diseases: Dent's disease, X-linked recessive nephrolithiasis (XRN), and X-linked recessive hypophosphatemic rickets (XLRH). The study found that all three diseases were caused by mutations in the CLCN5 gene, which encodes a chloride channel protein expressed in the kidney. Mutation analysis using restriction enzymes and sequence-specific oligonucleotides revealed loss-of-function mutations in CLCN5 associated with the three inherited kidney stone diseases.

1. A common molecular basis for three
inherited kidney stone disease
PRESENTED BY: AHMED MADNI
REGISTRATION # SP14-BTY-011

2. List of contents
Introduction
Schematic presentation of CLC-5
Methods used in detection
Results
Conclusion
References
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3. Introduction
Inherited kidney stone disease
Diseases are
I. Dent’s disease
II. X-linked recessive nephrolithiasis
III. X-linked recessive hypophosphataemic rickets
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4. Characteristics of gene product
CLCN-5
Encodes for putative renal chloride channel proteins
Functions are
I. Control membrane excitability
II. Transepithelial transport
III. Regulation cell volume
Mutation in this gene cause abnormalities
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5. Schematic representation of CLCN-5
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6. Methods used in identification
Mutation detected by
1) Restriction Enzymes
2) Sequence Specific Oligonucleotide (SSO)
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7. Restriction Enzyme
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8. Sequence specific Oligonucleotide (SSO)
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9. Results
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10. Cont…
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11. Conclusion
Molecular genetic studies of CLCN5 demonstrated that
mutations, which resulted in a functional loss, were
associated with Dent's disease, XRN and X-linked
recessive hypophosphatemic rickets (XLRH). Thus,
hereditary disorders of nephrolithiasis are due to
mutations of the novel chloride channel, CLCN5.
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12. Reference
Lloyd, S. E., Pearce, S. H., Fisher, S. E., & Steinmeyer, K.
(1996). A common molecular basis for three inherited
kidney stone diseases. Nature, 379(6564), 445.
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