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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients
Nephron - Clinical Practice, Volume 120, No. 3, Year 2012
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Description
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. Copyright © 2012 S. Karger AG, Basel.
Authors & Co-Authors
Ovunc, Bugsu
United States, Ann Arbor
University of Michigan, Ann Arbor
Turkey, Ankara
Hacettepe Üniversitesi
Ashraf, Shazia
United States, Ann Arbor
University of Michigan, Ann Arbor
Vega-Warner, Virginia
United States, Ann Arbor
University of Michigan, Ann Arbor
Böckenhauer, Detlef
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Soliman Elshakhs, Neveen A.
Egypt, Giza
Cairo University
Egypt, Cairo
Egyptian Group for Orphan Renal Diseases Egord
Joseph, Mark
United States, Phoenix
Phoenix Children's Hospital
Hildebrandt, Friedhelm
United States, Ann Arbor
University of Michigan, Ann Arbor
United States, Ann Arbor
Michigan Medicine
Statistics
Citations: 33
Authors: 7
Affiliations: 7
Identifiers
Doi:
10.1159/000337379
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health
Study Design
Cohort Study