Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis
Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis
Diffuse mesangial sclerosis occurs as an isolated abnormality or as a part of a syndrome. Recently, mutations in phospholipase C epsilon 1 (PLCE1) were found to cause a nonsyndromic, autosomal recessive form of this disease. Here we describe three children from one consanguineous kindred of Pakistani origin with diffuse mesangial sclerosis who presented with congenital or infantile nephrotic syndrome. Homozygous mutations in PLCE1 (also known as KIAA1516, PLCE, or NPHS3) were identified following genome-wide mapping of single-nucleotide polymorphisms. All affected children were homozygous for a four-basepair deletion in exon 3, which created a premature translational stop codon. Analysis of the asymptomatic father of two of the children revealed that he was also homozygous for the same mutation. We conclude this nonpenetrance may be due to compensatory mutations at a second locus and that mutation within PLCE1 is not always sufficient to cause diffuse mesangial sclerosis
congenital nephrotic syndrome, consanguineous, diffuse
mesangial sclerosis, genome-wide SNP analysis, phospholipase C epsilon 1
415-419
Gilbert, Rodney D.
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Turner, Claire L.S.
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Gibson, Jane
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Bass, Paul S.
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Haq, Mushfequr R.
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Cross, Esta
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Bunyan, David J.
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Collins, Andrew R.
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Tapper, William J.
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Needell, Juliet C.
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Dell, Beverley
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Morton, Newton E.
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Temple, I. Karen
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Robinson, David O.
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February 2009
Gilbert, Rodney D.
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Turner, Claire L.S.
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Gibson, Jane
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Bass, Paul S.
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Haq, Mushfequr R.
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Cross, Esta
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Bunyan, David J.
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Collins, Andrew R.
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Tapper, William J.
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Needell, Juliet C.
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Dell, Beverley
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Morton, Newton E.
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Temple, I. Karen
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Robinson, David O.
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Gilbert, Rodney D., Turner, Claire L.S., Gibson, Jane, Bass, Paul S., Haq, Mushfequr R., Cross, Esta, Bunyan, David J., Collins, Andrew R., Tapper, William J., Needell, Juliet C., Dell, Beverley, Morton, Newton E., Temple, I. Karen and Robinson, David O.
(2009)
Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis.
Kidney International, 75 (4), .
(doi:10.1038/ki.2008.573).
Abstract
Diffuse mesangial sclerosis occurs as an isolated abnormality or as a part of a syndrome. Recently, mutations in phospholipase C epsilon 1 (PLCE1) were found to cause a nonsyndromic, autosomal recessive form of this disease. Here we describe three children from one consanguineous kindred of Pakistani origin with diffuse mesangial sclerosis who presented with congenital or infantile nephrotic syndrome. Homozygous mutations in PLCE1 (also known as KIAA1516, PLCE, or NPHS3) were identified following genome-wide mapping of single-nucleotide polymorphisms. All affected children were homozygous for a four-basepair deletion in exon 3, which created a premature translational stop codon. Analysis of the asymptomatic father of two of the children revealed that he was also homozygous for the same mutation. We conclude this nonpenetrance may be due to compensatory mutations at a second locus and that mutation within PLCE1 is not always sufficient to cause diffuse mesangial sclerosis
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Published date: February 2009
Keywords:
congenital nephrotic syndrome, consanguineous, diffuse
mesangial sclerosis, genome-wide SNP analysis, phospholipase C epsilon 1
Identifiers
Local EPrints ID: 69625
URI: http://eprints.soton.ac.uk/id/eprint/69625
ISSN: 0085-2538
PURE UUID: 147a2203-36da-4773-9482-e4e922d52316
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Date deposited: 20 Nov 2009
Last modified: 14 Mar 2024 02:48
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Contributors
Author:
Rodney D. Gilbert
Author:
Claire L.S. Turner
Author:
Paul S. Bass
Author:
Mushfequr R. Haq
Author:
Esta Cross
Author:
David J. Bunyan
Author:
Juliet C. Needell
Author:
Beverley Dell
Author:
Newton E. Morton
Author:
David O. Robinson
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