A common molecular basis for three inherited kidney stone diseases

S E Lloyd; S H Pearce; S E Fisher; K Steinmeyer; B Schwappach; S J Scheinman; B Harding; A Bolino; M Devoto; P Goodyer; S P Rigden; O Wrong; T J Jentsch; I W Craig; R V Thakker

doi:10.1038/379445a0

A common molecular basis for three inherited kidney stone diseases

Standard

A common molecular basis for three inherited kidney stone diseases. / Lloyd, S E; Pearce, S H; Fisher, S E; Steinmeyer, K; Schwappach, B; Scheinman, S J; Harding, B; Bolino, A; Devoto, M; Goodyer, P; Rigden, S P; Wrong, O; Jentsch, T J; Craig, I W; Thakker, R V.

in: NATURE, Jahrgang 379, Nr. 6564, 01.02.1996, S. 445-9.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Lloyd, SE, Pearce, SH, Fisher, SE, Steinmeyer, K, Schwappach, B, Scheinman, SJ, Harding, B, Bolino, A, Devoto, M, Goodyer, P, Rigden, SP, Wrong, O, Jentsch, TJ, Craig, IW & Thakker, RV 1996, 'A common molecular basis for three inherited kidney stone diseases', NATURE, Jg. 379, Nr. 6564, S. 445-9. https://doi.org/10.1038/379445a0

APA

Lloyd, S. E., Pearce, S. H., Fisher, S. E., Steinmeyer, K., Schwappach, B., Scheinman, S. J., Harding, B., Bolino, A., Devoto, M., Goodyer, P., Rigden, S. P., Wrong, O., Jentsch, T. J., Craig, I. W., & Thakker, R. V. (1996). A common molecular basis for three inherited kidney stone diseases. NATURE, 379(6564), 445-9. https://doi.org/10.1038/379445a0

Vancouver

Lloyd SE, Pearce SH, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ et al. A common molecular basis for three inherited kidney stone diseases. NATURE. 1996 Feb 1;379(6564):445-9. https://doi.org/10.1038/379445a0

Bibtex

@article{9baa42738f0d4c5aa77557e2e1ad36b7,

title = "A common molecular basis for three inherited kidney stone diseases",

abstract = "Kidney stones (nephrolithiasis), which affect 12% of males and 5% of females in the western world, are familial in 45% of patients and are most commonly associated with hypercalciuria. Three disorders of hypercalciuric nephrolithiasis (Dent's disease, X-linked recessive nephrolithiasis (XRN), and X-linked recessive hypophosphataemic rickets (XLRH)) have been mapped to Xp11.22 (refs 5-7). A microdeletion in one Dent's disease kindred allowed the identification of a candidate gene, CLCN5 (refs 8,9) which encodes a putative renal chloride channel. Here we report the investigation of 11 kindreds with these renal tubular disorders for CLCN5 abnormalities; this identified three nonsense, four missense and two donor splice site mutations, together with one intragenic deletion and one microdeletion encompassing the entire gene. Heterologous expression of wild-type CLCN5 in Xenopus oocytes yielded outwardly rectifying chloride currents, which were either abolished or markedly reduced by the mutations. The common aetiology for Dent's disease, XRN and XLRH indicates that CLCN5 may be involved in other renal tubular disorders associated with kidney stones.",

keywords = "Amino Acid Sequence, Animals, Base Sequence, Calcium/urine, Cells, Cultured, Chloride Channels/chemistry, DNA, DNA Mutational Analysis, Electrochemistry, Female, Kidney Calculi/genetics, Male, Molecular Sequence Data, Mutation, Pedigree, Polymerase Chain Reaction, Protein Conformation, Recombinant Proteins/chemistry, Xenopus",

author = "Lloyd, {S E} and Pearce, {S H} and Fisher, {S E} and K Steinmeyer and B Schwappach and Scheinman, {S J} and B Harding and A Bolino and M Devoto and P Goodyer and Rigden, {S P} and O Wrong and Jentsch, {T J} and Craig, {I W} and Thakker, {R V}",

year = "1996",

month = feb,

day = "1",

doi = "10.1038/379445a0",

language = "English",

volume = "379",

pages = "445--9",

journal = "NATURE",

issn = "0028-0836",

publisher = "NATURE PUBLISHING GROUP",

number = "6564",

}

RIS

TY - JOUR

T1 - A common molecular basis for three inherited kidney stone diseases

AU - Lloyd, S E

AU - Pearce, S H

AU - Fisher, S E

AU - Steinmeyer, K

AU - Schwappach, B

AU - Scheinman, S J

AU - Harding, B

AU - Bolino, A

AU - Devoto, M

AU - Goodyer, P

AU - Rigden, S P

AU - Wrong, O

AU - Jentsch, T J

AU - Craig, I W

AU - Thakker, R V

PY - 1996/2/1

Y1 - 1996/2/1

N2 - Kidney stones (nephrolithiasis), which affect 12% of males and 5% of females in the western world, are familial in 45% of patients and are most commonly associated with hypercalciuria. Three disorders of hypercalciuric nephrolithiasis (Dent's disease, X-linked recessive nephrolithiasis (XRN), and X-linked recessive hypophosphataemic rickets (XLRH)) have been mapped to Xp11.22 (refs 5-7). A microdeletion in one Dent's disease kindred allowed the identification of a candidate gene, CLCN5 (refs 8,9) which encodes a putative renal chloride channel. Here we report the investigation of 11 kindreds with these renal tubular disorders for CLCN5 abnormalities; this identified three nonsense, four missense and two donor splice site mutations, together with one intragenic deletion and one microdeletion encompassing the entire gene. Heterologous expression of wild-type CLCN5 in Xenopus oocytes yielded outwardly rectifying chloride currents, which were either abolished or markedly reduced by the mutations. The common aetiology for Dent's disease, XRN and XLRH indicates that CLCN5 may be involved in other renal tubular disorders associated with kidney stones.

AB - Kidney stones (nephrolithiasis), which affect 12% of males and 5% of females in the western world, are familial in 45% of patients and are most commonly associated with hypercalciuria. Three disorders of hypercalciuric nephrolithiasis (Dent's disease, X-linked recessive nephrolithiasis (XRN), and X-linked recessive hypophosphataemic rickets (XLRH)) have been mapped to Xp11.22 (refs 5-7). A microdeletion in one Dent's disease kindred allowed the identification of a candidate gene, CLCN5 (refs 8,9) which encodes a putative renal chloride channel. Here we report the investigation of 11 kindreds with these renal tubular disorders for CLCN5 abnormalities; this identified three nonsense, four missense and two donor splice site mutations, together with one intragenic deletion and one microdeletion encompassing the entire gene. Heterologous expression of wild-type CLCN5 in Xenopus oocytes yielded outwardly rectifying chloride currents, which were either abolished or markedly reduced by the mutations. The common aetiology for Dent's disease, XRN and XLRH indicates that CLCN5 may be involved in other renal tubular disorders associated with kidney stones.

KW - Amino Acid Sequence

KW - Animals

KW - Base Sequence

KW - Calcium/urine

KW - Cells, Cultured

KW - Chloride Channels/chemistry

KW - DNA

KW - DNA Mutational Analysis

KW - Electrochemistry

KW - Female

KW - Kidney Calculi/genetics

KW - Male

KW - Molecular Sequence Data

KW - Mutation

KW - Pedigree

KW - Polymerase Chain Reaction

KW - Protein Conformation

KW - Recombinant Proteins/chemistry

KW - Xenopus

U2 - 10.1038/379445a0

DO - 10.1038/379445a0

M3 - SCORING: Journal article

C2 - 8559248

VL - 379

SP - 445

EP - 449

JO - NATURE

JF - NATURE

SN - 0028-0836

IS - 6564

ER -