Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients
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Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients. / Ovunc, Bugsu; Ashraf, Shazia; Vega-Warner, Virginia; Bockenhauer, Detlef; Elshakhs, Neveen A Soliman; Joseph, Mark; Hildebrandt, Friedhelm; Gesellschaft für Pädiatrische Nephrologie (GPN); Kemper, Markus Josef.
in: NEPHRON, Jahrgang 120, Nr. 3, 01.01.2012, S. c139-46.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients
AU - Ovunc, Bugsu
AU - Ashraf, Shazia
AU - Vega-Warner, Virginia
AU - Bockenhauer, Detlef
AU - Elshakhs, Neveen A Soliman
AU - Joseph, Mark
AU - Hildebrandt, Friedhelm
AU - Gesellschaft für Pädiatrische Nephrologie (GPN)
AU - Kemper, Markus Josef
N1 - Copyright © 2012 S. Karger AG, Basel.
PY - 2012/1/1
Y1 - 2012/1/1
N2 - BACKGROUND: Congenital nephrotic syndrome (CNS) is defined as nephrotic syndrome that manifests within the first 3 months of life. Mutations in the NPHS1 gene encoding nephrin, are a major cause for CNS. Currently, more than 173 different mutations of NPHS1 have been published as causing CNS, affecting most exons.METHODS: We performed mutation analysis of NPHS1 in a worldwide cohort of 20 families (23 children) with CNS. All 29 exons of the NPHS1 gene were examined using direct sequencing. New mutations were confirmed by demonstrating their absence in 96 healthy control individuals.RESULTS: We detected disease-causing mutations in 9 of 20 families (45%). Seven of the families showed a homozygous mutation, while two were compound heterozygous. In another 2 families, single heterozygous NPHS1 mutations were detected. Out of 10 different mutations discovered, 3 were novel, consisting of 1 splice site mutation and 2 missense mutations.CONCLUSION: Our data demonstrate that the spectrum of NPHS1 mutations is still expanding, involving new exons, in patients from a diverse ethnic background.
AB - BACKGROUND: Congenital nephrotic syndrome (CNS) is defined as nephrotic syndrome that manifests within the first 3 months of life. Mutations in the NPHS1 gene encoding nephrin, are a major cause for CNS. Currently, more than 173 different mutations of NPHS1 have been published as causing CNS, affecting most exons.METHODS: We performed mutation analysis of NPHS1 in a worldwide cohort of 20 families (23 children) with CNS. All 29 exons of the NPHS1 gene were examined using direct sequencing. New mutations were confirmed by demonstrating their absence in 96 healthy control individuals.RESULTS: We detected disease-causing mutations in 9 of 20 families (45%). Seven of the families showed a homozygous mutation, while two were compound heterozygous. In another 2 families, single heterozygous NPHS1 mutations were detected. Out of 10 different mutations discovered, 3 were novel, consisting of 1 splice site mutation and 2 missense mutations.CONCLUSION: Our data demonstrate that the spectrum of NPHS1 mutations is still expanding, involving new exons, in patients from a diverse ethnic background.
KW - Asian Continental Ancestry Group
KW - Case-Control Studies
KW - Cohort Studies
KW - DNA Mutational Analysis
KW - European Continental Ancestry Group
KW - Exons
KW - Female
KW - Heterozygote
KW - Homozygote
KW - Humans
KW - Infant
KW - Infant, Newborn
KW - Male
KW - Membrane Proteins
KW - Nephrotic Syndrome
U2 - 10.1159/000337379
DO - 10.1159/000337379
M3 - SCORING: Journal article
C2 - 22584503
VL - 120
SP - c139-46
JO - NEPHRON
JF - NEPHRON
SN - 1660-8151
IS - 3
ER -
