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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)
Nephrology Dialysis Transplantation, Volume 25, No. 9, Year 2010
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Description
Background. Recessive mutations in the NPHS1 gene encoding nephrin account for ∼40% of infants with congenital nephrotic syndrome (CNS). CNS is defined as steroid-resistant nephrotic syndrome (SRNS) within the first 90days of life. Currently, more than 119 different mutations of NPHS1 have been published affecting most exons.Methods. We here performed mutational analysis of NPHS1 in a worldwide cohort of 67 children from 62 different families with CNS.Results. We found bi-allelic mutations in 36 of the 62 families (58%) confirming in a worldwide cohort that about one-half of CNS is caused by NPHS1 mutations. In 26 families, mutations were homozygous, and in 10, they were compound heterozygous. In an additional nine patients from eight families, only one heterozygous mutation was detected. We detected 37 different mutations. Nineteen of the 37 were novel mutations (∼51.4%), including 11 missense mutations, 4 splice-site mutations, 3 nonsense mutations and 1 small deletion. In an additional patient with later manifestation, we discovered two further novel mutations, including the first one affecting a glycosylation site of nephrin.Conclusions. Our data hereby expand the spectrum of known mutations by 17.6%. Surprisingly, out of the two siblings with the homozygous novel mutation L587R in NPHS1, only one developed nephrotic syndrome before the age of 90days, while the other one did not manifest until the age of 2years. Both siblings also unexpectedly experienced an episode of partial remission upon steroid treatment. © The Author 2010. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.
Authors & Co-Authors
Schoeb, Dominik Stefan
United States, Ann Arbor
University of Michigan, Ann Arbor
Germany, Erlangen
Friedrich-alexander-universität Erlangen-nürnberg
Chernin, Gil
United States, Ann Arbor
University of Michigan, Ann Arbor
Heeringa, Saskia F.
United States, Ann Arbor
University of Michigan, Ann Arbor
Matejas, Verena
Germany, Erlangen
Friedrich-alexander-universität Erlangen-nürnberg
Held, Susanne
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
Vlangos, Christopher N.
United States, Ann Arbor
University of Michigan, Ann Arbor
Moorani, Khemchand
Pakistan, Karachi
National Institute of Child Health Pakistan
Neuhaus, Thomas J.
Switzerland, Zurich
Kinderspital Zürich
Kari, Jameela Abdulaziz
Saudi Arabia, Jeddah
King Abdulaziz University Hospital Kauh
MacDonald, James
United States, Ann Arbor
University of Michigan, Ann Arbor
Saisawat, Pawaree
United States, Ann Arbor
University of Michigan, Ann Arbor
Ashraf, Shazia
United States, Ann Arbor
University of Michigan, Ann Arbor
Ovunc, Bugsu
United States, Ann Arbor
University of Michigan, Ann Arbor
Zenker, Martin
Germany, Erlangen
Friedrich-alexander-universität Erlangen-nürnberg
Hildebrandt, Friedhelm
United States, Ann Arbor
University of Michigan, Ann Arbor
United States, Chevy Chase
Howard Hughes Medical Institute
Statistics
Citations: 83
Authors: 17
Affiliations: 7
Identifiers
Doi:
10.1093/ndt/gfq088
ISSN:
09310509
e-ISSN:
14602385
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Study Design
Cohort Study