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Article ; Online: Pediatric P-ANCA vasculitis following COVID-19.

Fireizen, Yaron / Shahriary, Cyrus / Imperial, Maria E / Randhawa, Inderpal / Nianiaris, Nastasia / Ovunc, Bugsu

2021 Volume 56, Issue 10, Page(s) 3422–3424

Abstract: Background: Perinuclear anti-neutrophil cytoplasmic antibodies (P-ANCA) are associated with a multisystem vasculitis affecting small blood vessels in the body. A handful of adult patients who developed vasculitis post-COVID-19 have been reported. ... ...

Abstract	Background: Perinuclear anti-neutrophil cytoplasmic antibodies (P-ANCA) are associated with a multisystem vasculitis affecting small blood vessels in the body. A handful of adult patients who developed vasculitis post-COVID-19 have been reported. Although SARS-CoV-2 has been shown to drive an exaggerated immune response in the pediatric population, such as in Multisystem Inflammatory Syndrome in Children (MIS-C), only one case of vasculitis following COVID-19 has been reported previously in children. Case presentation: Seventeen-year-old male with a past medical history of COVID-19 pneumonia two months prior presented with acute kidney injury and diffuse alveolar hemorrhage. Rheumatologic workup revealed P-ANCA and Myeloperoxidase (MPO) positivity. Kidney biopsy showed necrotizing glomerulonephritis with limited immune complex deposition. Subsequently, he was treated with steroids and plasmapheresis, and ultimately started on cyclophosphamide. Conclusions: To our knowledge, this report presents the second reported pediatric case of P-ANCA/MPO vasculitis following COVID-19.
MeSH term(s)	Adolescent ; Adult ; Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis/complications ; Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis/diagnosis ; Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis/drug therapy ; Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis/immunology ; Antibodies, Antineutrophil Cytoplasmic ; COVID-19/diagnosis ; COVID-19/immunology ; COVID-19/virology ; Child ; Humans ; Male ; Peroxidase ; SARS-CoV-2/immunology ; SARS-CoV-2/pathogenicity ; Systemic Inflammatory Response Syndrome ; Treatment Outcome ; Vasculitis/diagnosis ; Vasculitis/etiology
Chemical Substances	Antibodies, Antineutrophil Cytoplasmic ; Peroxidase (EC 1.11.1.7)
Language	English
Publishing date	2021-08-11
Publishing country	United States
Document type	Case Reports
ZDB-ID	632784-9
ISSN	1099-0496 ; 8755-6863
ISSN (online)	1099-0496
ISSN	8755-6863
DOI	10.1002/ppul.25612
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Zs.A 2143: Show issues

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Article ; Online: 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

Nephron. Clinical practice

2012 Volume 120, Issue 3, Page(s) c139–46

Abstract: 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 ... ...

Abstract	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.
MeSH term(s)	Asian Continental Ancestry Group/genetics ; Case-Control Studies ; Cohort Studies ; DNA Mutational Analysis ; European Continental Ancestry Group/genetics ; Exons/genetics ; Female ; Heterozygote ; Homozygote ; Humans ; Infant ; Infant, Newborn ; Male ; Membrane Proteins/genetics ; Nephrotic Syndrome/congenital ; Nephrotic Syndrome/genetics
Chemical Substances	Membrane Proteins ; nephrin
Language	English
Publishing date	2012-05-11
Publishing country	Switzerland
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	207121-6
ISSN	1660-2110 ; 1423-0186 ; 2235-3186 ; 1660-8151 ; 0028-2766
ISSN (online)	1660-2110 ; 1423-0186 ; 2235-3186
ISSN	1660-8151 ; 0028-2766
DOI	10.1159/000337379
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Zs.A 169: Show issues

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Article ; Online: Quality metrics in cardiac catheterization for congenital heart disease: utility of 30-day mortality.

Backes, Carl H / Bergersen, Lisa / Rome, Jonathan J / Batlivala, Sarosh P / Glatz, Andrew C / Ovunc, Bugsu / David, Sthuthi / Rivera, Brian K / Haque, Urbee / Kollins, Kevin / Yin, Han / Holzer, Ralf J

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions

2015 Volume 85, Issue 1, Page(s) 104–110

Abstract: Objectives: To characterize the frequency and attributability of death among patients who died within 30 days of their cardiac catheterization (30-day mortality).: Background: 30-day postprocedure mortality is commonly used as a quality outcome ... ...

Abstract	Objectives: To characterize the frequency and attributability of death among patients who died within 30 days of their cardiac catheterization (30-day mortality). Background: 30-day postprocedure mortality is commonly used as a quality outcome metric in national cardiac catheterization registries. It is unclear if this parameter is sufficiently specific to meaningfully capture mortality attributable to cardiac catheterization in patients with congenital heart disease (CHD). Methods: Multicenter cohort study with 3 participating centers. Records were retrospectively reviewed for patients who died within 30 days of catheterization (06/2007-06/2012). Attributability of death was assigned to each case. Results: A total of 14,707 cardiac catheterization procedures were performed during the study period. Death occurred within 30 days in 279/14,707 (1.9%) of cases. Among the patients who died, 53% of cases were emergent or urgent cases. The median age was 4 mos (1 day-45 years). Death was attributable to the catheterization procedure in 29/279 (10%) of cases. Death was attributable to cardiac surgery in 14%, precatheterization clinical status in 34%, postcatheterization clinical status in 22%, and noncardiac comorbidity in 19%. In 1%, death attributability could not be established. Conclusions: While valuable in adult settings, 30-day mortality is inadequate as a quality metric among patients with CHD undergoing cardiac catheterization. To derive the optimal benefit from catheterization registry data, more robust methodologies to capture procedure-related mortality are needed. © 2014 Wiley Periodicals, Inc.
MeSH term(s)	Adolescent ; Adult ; Cardiac Catheterization/adverse effects ; Cardiac Catheterization/mortality ; Cardiac Catheterization/standards ; Cardiac Surgical Procedures/adverse effects ; Cardiac Surgical Procedures/mortality ; Cause of Death ; Child ; Child, Preschool ; Comorbidity ; Female ; Heart Defects, Congenital/diagnosis ; Heart Defects, Congenital/mortality ; Heart Defects, Congenital/therapy ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Predictive Value of Tests ; Quality Indicators, Health Care/standards ; Retrospective Studies ; Risk Assessment ; Risk Factors ; Time Factors ; Treatment Outcome ; United States ; Young Adult
Language	English
Publishing date	2015-01-01
Publishing country	United States
Document type	Journal Article ; Multicenter Study
ZDB-ID	1459995-8
ISSN	1522-726X ; 1522-1946
ISSN (online)	1522-726X
ISSN	1522-1946
DOI	10.1002/ccd.25683
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Zs.A 1226: Show issues

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Article ; Online: Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations.

Chernin, Gil / Vega-Warner, Virginia / Schoeb, Dominik S / Heeringa, Saskia F / Ovunc, Bugsu / Saisawat, Pawaree / Cleper, Roxana / Ozaltin, Fatih / Hildebrandt, Friedhelm

Clinical journal of the American Society of Nephrology : CJASN

2010 Volume 5, Issue 9, Page(s) 1655–1662

Abstract: Background and objectives: The risk of developing Wilms tumor (WT) can be present or absent in patients with nephrotic syndrome (NS) caused by WT1 mutations. Here, the genotype/phenotype correlation regarding the outcome and risk for WT in 52 patients ... ...

Abstract	Background and objectives: The risk of developing Wilms tumor (WT) can be present or absent in patients with nephrotic syndrome (NS) caused by WT1 mutations. Here, the genotype/phenotype correlation regarding the outcome and risk for WT in 52 patients from 51 families with NS due to WT1 mutations is described. Design, setting, participants, & measurements: This study followed 19 patients with mutations in intron 9 splice donor site (KTS mutations), 27 patients with missense mutations, 4 patients with nonsense mutations, 1 patient with a splice site mutation in intron 8, and 1 patient with a deletion. Results: Twenty-four different WT1 mutations were detected. Sixteen of the 19 patients with KTS mutations were females. These patients had isolated NS if karyotype was 46,XX and Frasier syndrome if karyotype was 46,XY. Patients with KTS mutations presented at a significantly older age and with a slower progression toward chronic kidney disease (CKD) stage 5, compared with missense mutations. Patients with nonsense mutations presented initially with WT. Six patients with missense mutations developed WT after the diagnosis of NS (interval-range from NS onset to WT of 0.1 to 1.4 years). Conclusions: (1) KTS mutations cause isolated NS with absence of WT in 46,XX females. (2) KTS mutations cause Frasier syndrome with gonadoblastoma risk in 46,XY phenotypic females. (3) KTS mutations cause NS with a slower progression when compared with missense mutations. (4) Missense mutations can occur with and without WT. (5) WT1 analysis is important in young patients with NS for early detection and tumor prophylaxis.
MeSH term(s)	Age of Onset ; Child ; Child, Preschool ; Codon, Nonsense ; DNA Mutational Analysis ; Disease Progression ; Female ; Frasier Syndrome/ethnology ; Frasier Syndrome/genetics ; Frasier Syndrome/mortality ; Genes, Wilms Tumor ; Genetic Association Studies ; Genetic Predisposition to Disease ; Gonadoblastoma/ethnology ; Gonadoblastoma/genetics ; Gonadoblastoma/mortality ; Humans ; Infant ; Introns ; Israel ; Kaplan-Meier Estimate ; Karyotyping ; Kidney Failure, Chronic/ethnology ; Kidney Failure, Chronic/genetics ; Kidney Failure, Chronic/mortality ; Kidney Neoplasms/ethnology ; Kidney Neoplasms/genetics ; Kidney Neoplasms/mortality ; Male ; Mutation ; Mutation, Missense ; Nephrotic Syndrome/ethnology ; Nephrotic Syndrome/genetics ; Nephrotic Syndrome/mortality ; Pedigree ; Phenotype ; Risk Assessment ; Risk Factors ; Sequence Deletion ; Time Factors ; Turkey ; United States ; Wilms Tumor/ethnology ; Wilms Tumor/genetics ; Wilms Tumor/mortality
Chemical Substances	Codon, Nonsense
Language	English
Publishing date	2010-07-01
Publishing country	United States
Document type	Journal Article ; Multicenter Study ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2226665-3
ISSN	1555-905X ; 1555-9041
ISSN (online)	1555-905X
ISSN	1555-9041
DOI	10.2215/CJN.09351209
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Zs.A 6584: Show issues

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Article ; Online: Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.

Ovunc, Bugsu / Otto, Edgar A / Vega-Warner, Virginia / Saisawat, Pawaree / Ashraf, Shazia / Ramaswami, Gokul / Fathy, Hanan M / Schoeb, Dominik / Chernin, Gil / Lyons, Robert H / Yilmaz, Engin / Hildebrandt, Friedhelm

Journal of the American Society of Nephrology : JASN

2011 Volume 22, Issue 10, Page(s) 1815–1820

Abstract: In two siblings of consanguineous parents with intermittent nephrotic-range proteinuria, we identified a homozygous deleterious frameshift mutation in the gene CUBN, which encodes cubulin, using exome capture and massively parallel re-sequencing. The ... ...

Abstract	In two siblings of consanguineous parents with intermittent nephrotic-range proteinuria, we identified a homozygous deleterious frameshift mutation in the gene CUBN, which encodes cubulin, using exome capture and massively parallel re-sequencing. The mutation segregated with affected members of this family and was absent from 92 healthy individuals, thereby identifying a recessive mutation in CUBN as the single-gene cause of proteinuria in this sibship. Cubulin mutations cause a hereditary form of megaloblastic anemia secondary to vitamin B(12) deficiency, and proteinuria occurs in 50% of cases since cubilin is coreceptor for both the intestinal vitamin B(12)-intrinsic factor complex and the tubular reabsorption of protein in the proximal tubule. In summary, we report successful use of exome capture and massively parallel re-sequencing to identify a rare, single-gene cause of nephropathy.
MeSH term(s)	Exome ; Frameshift Mutation ; Genes, Recessive ; Homozygote ; Humans ; Proteinuria/genetics ; Receptors, Cell Surface/genetics
Chemical Substances	Receptors, Cell Surface ; intrinsic factor-cobalamin receptor
Language	English
Publishing date	2011-09-08
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1085942-1
ISSN	1533-3450 ; 1046-6673
ISSN (online)	1533-3450
ISSN	1046-6673
DOI	10.1681/ASN.2011040337
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Zs.A 3344: Show issues

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Article ; Online: Mutation Analysis of NPHS1 in a Worldwide Cohort of Congenital Nephrotic Syndrome Patients

Ovunc, Bugsu / Ashraf, Shazia / Vega-Warner, Virginia / Bockenhauer, Detlef / Soliman Elshakhs, Neveen A. / Joseph, Mark / Hildebrandt, Friedhelm

Nephron Clinical Practice

2012 Volume 120, Issue 3, Page(s) c139–c146

Abstract	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.
Keywords	Mutation analysis ; Congenital nephrotic syndrome ; NPHS1
Language	English
Publisher	S. Karger AG
Publishing place	Basel
Publishing country	Switzerland
Document type	Article ; Online
ZDB-ID	207121-6
ISSN	1660-2110 ; 1423-0186 ; 0028-2766 ; 1660-8151 ; 1660-2110 ; 0028-2766 ; 1660-8151
ISSN (online)	1660-2110 ; 1423-0186
ISSN	1660-2110 ; 0028-2766 ; 1660-8151
DOI	10.1159/000337379
Database	Karger publisher's database

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Zs.A 169: Show issues

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Article: Mutation Analysis of ; in a Worldwide Cohort of Congenital Nephrotic Syndrome Patients

Ovunc, Bugsu / Ashraf, Shazia / Vega-Warner, Virginia / Bockenhauer, Detlef / Soliman Elshakhs, Neveen A. / Joseph, Mark / Hildebrandt, Friedhelm

Nephron Clinical Practice

2012 Volume 120, Issue 3, Page(s) c139–c146

Institution	Department of Pediatrics and Department of Human Genetics, and Howard Hughes Medical Institute, University of Michigan, Ann Arbor, Mich., and Pediatric Nephrology, Phoenix Children’s Hospital, Phoenix, Ariz., USA Department of Medical Biology, Hacettepe University, Ankara, Turkey Pediatric Nephrology, Great Ormond Street Hospital, London, UK Center of Pediatric Nephrology and Transplantation, Cairo University, and Egyptian Group for Orphan Renal Diseases (EGORD), Cairo, Egypt
Abstract	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.
Keywords	Mutation analysis ; Congenital nephrotic syndrome ; NPHS1
Language	English
Publishing date	2012-05-11
Publisher	S. Karger AG
Publishing place	Basel, Switzerland
Document type	Article
Note	Original Paper
ZDB-ID	207121-6
ISSN	1660-2110 ; 1423-0186 ; 2235-3186 ; 1660-8151 ; 0028-2766
ISSN (online)	1660-2110 ; 1423-0186 ; 2235-3186
ISSN	1660-8151 ; 0028-2766
DOI	10.1159/000337379
Database	Karger publisher's database

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Zs.A 169: Show issues

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Article ; Online: Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).

Schoeb, Dominik S / Chernin, Gil / Heeringa, Saskia F / Matejas, Verena / Held, Susanne / Vega-Warner, Virginia / Bockenhauer, Detlef / Vlangos, Christopher N / Moorani, Khemchand N / Neuhaus, Thomas J / Kari, Jameela A / MacDonald, James / Saisawat, Pawaree / Ashraf, Shazia / Ovunc, Bugsu / Zenker, Martin / Hildebrandt, Friedhelm

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

2010 Volume 25, Issue 9, Page(s) 2970–2976

Abstract: Background: Recessive mutations in the NPHS1 gene encoding nephrin account for approximately 40% of infants with congenital nephrotic syndrome (CNS). CNS is defined as steroid-resistant nephrotic syndrome (SRNS) within the first 90 days of life. ... ...

Abstract	Background: Recessive mutations in the NPHS1 gene encoding nephrin account for approximately 40% of infants with congenital nephrotic syndrome (CNS). CNS is defined as steroid-resistant nephrotic syndrome (SRNS) within the first 90 days 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 (approximately 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 90 days, while the other one did not manifest until the age of 2 years. Both siblings also unexpectedly experienced an episode of partial remission upon steroid treatment.
MeSH term(s)	Cohort Studies ; Exons/genetics ; Family ; Female ; Genotype ; Global Health ; Heterozygote ; Homozygote ; Humans ; Infant ; Infant, Newborn ; Male ; Membrane Proteins/genetics ; Mutation/genetics ; Nephrotic Syndrome/congenital ; Nephrotic Syndrome/genetics ; Nephrotic Syndrome/pathology ; Phenotype ; Prognosis
Chemical Substances	Membrane Proteins ; nephrin
Language	English
Publishing date	2010-02-18
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	90594-x
ISSN	1460-2385 ; 0931-0509
ISSN (online)	1460-2385
ISSN	0931-0509
DOI	10.1093/ndt/gfq088
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Zs.A 2198: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 329: Show issues

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Article ; Online: ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.

Gee, Heon Yung / Saisawat, Pawaree / Ashraf, Shazia / Hurd, Toby W / Vega-Warner, Virginia / Fang, Humphrey / Beck, Bodo B / Gribouval, Olivier / Zhou, Weibin / Diaz, Katrina A / Natarajan, Sivakumar / Wiggins, Roger C / Lovric, Svjetlana / Chernin, Gil / Schoeb, Dominik S / Ovunc, Bugsu / Frishberg, Yaacov / Soliman, Neveen A / Fathy, Hanan M /

Goebel, Heike / Hoefele, Julia / Weber, Lutz T / Innis, Jeffrey W / Faul, Christian / Han, Zhe / Washburn, Joseph / Antignac, Corinne / Levy, Shawn / Otto, Edgar A / Hildebrandt, Friedhelm

The Journal of clinical investigation

2013 Volume 123, Issue 8, Page(s) 3243–3253

Abstract: Nephrotic syndrome (NS) is divided into steroid-sensitive (SSNS) and -resistant (SRNS) variants. SRNS causes end-stage kidney disease, which cannot be cured. While the disease mechanisms of NS are not well understood, genetic mapping studies suggest a ... ...

Abstract	Nephrotic syndrome (NS) is divided into steroid-sensitive (SSNS) and -resistant (SRNS) variants. SRNS causes end-stage kidney disease, which cannot be cured. While the disease mechanisms of NS are not well understood, genetic mapping studies suggest a multitude of unknown single-gene causes. We combined homozygosity mapping with whole-exome resequencing and identified an ARHGDIA mutation that causes SRNS. We demonstrated that ARHGDIA is in a complex with RHO GTPases and is prominently expressed in podocytes of rat glomeruli. ARHGDIA mutations (R120X and G173V) from individuals with SRNS abrogated interaction with RHO GTPases and increased active GTP-bound RAC1 and CDC42, but not RHOA, indicating that RAC1 and CDC42 are more relevant to the pathogenesis of this SRNS variant than RHOA. Moreover, the mutations enhanced migration of cultured human podocytes; however, enhanced migration was reversed by treatment with RAC1 inhibitors. The nephrotic phenotype was recapitulated in arhgdia-deficient zebrafish. RAC1 inhibitors were partially effective in ameliorating arhgdia-associated defects. These findings identify a single-gene cause of NS and reveal that RHO GTPase signaling is a pathogenic mediator of SRNS.
MeSH term(s)	Animals ; Base Sequence ; Case-Control Studies ; Cell Movement ; Cells, Cultured ; Chromosome Mapping ; Consanguinity ; Gene Knockdown Techniques ; Genetic Association Studies ; Homozygote ; Humans ; Mutation, Missense ; Nephrotic Syndrome/enzymology ; Nephrotic Syndrome/genetics ; Nephrotic Syndrome/pathology ; Podocytes/metabolism ; Podocytes/physiology ; Protein Binding ; Protein Interaction Mapping ; Protein Transport ; Sequence Analysis, DNA ; Signal Transduction ; Zebrafish ; cdc42 GTP-Binding Protein/metabolism ; rac1 GTP-Binding Protein/metabolism ; rho Guanine Nucleotide Dissociation Inhibitor alpha/genetics ; rho Guanine Nucleotide Dissociation Inhibitor alpha/metabolism ; rhoA GTP-Binding Protein/metabolism
Chemical Substances	ARHGDIA protein, human ; RAC1 protein, human ; rho Guanine Nucleotide Dissociation Inhibitor alpha ; RHOA protein, human (124671-05-2) ; cdc42 GTP-Binding Protein (EC 3.6.5.2) ; rac1 GTP-Binding Protein (EC 3.6.5.2) ; rhoA GTP-Binding Protein (EC 3.6.5.2)
Language	English
Publishing date	2013-07-08
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	3067-3
ISSN	1558-8238 ; 0021-9738
ISSN (online)	1558-8238
ISSN	0021-9738
DOI	10.1172/JCI69134
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Ua VI Zs.184: Show issues

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Article ; Online: A systematic approach to mapping recessive disease genes in individuals from outbred populations.

Hildebrandt, Friedhelm / Heeringa, Saskia F / Rüschendorf, Franz / Attanasio, Massimo / Nürnberg, Gudrun / Becker, Christian / Seelow, Dominik / Huebner, Norbert / Chernin, Gil / Vlangos, Christopher N / Zhou, Weibin / O'Toole, John F / Hoskins, Bethan E / Wolf, Matthias T F / Hinkes, Bernward G / Chaib, Hassan / Ashraf, Shazia / Schoeb, Dominik S / Ovunc, Bugsu /

Allen, Susan J / Vega-Warner, Virginia / Wise, Eric / Harville, Heather M / Lyons, Robert H / Washburn, Joseph / Macdonald, James / Nürnberg, Peter / Otto, Edgar A

PLoS genetics

2009 Volume 5, Issue 1, Page(s) e1000353

Abstract: The identification of recessive disease-causing genes by homozygosity mapping is often restricted by lack of suitable consanguineous families. To overcome these limitations, we apply homozygosity mapping to single affected individuals from outbred ... ...

Abstract	The identification of recessive disease-causing genes by homozygosity mapping is often restricted by lack of suitable consanguineous families. To overcome these limitations, we apply homozygosity mapping to single affected individuals from outbred populations. In 72 individuals of 54 kindred ascertained worldwide with known homozygous mutations in 13 different recessive disease genes, we performed total genome homozygosity mapping using 250,000 SNP arrays. Likelihood ratio Z-scores (ZLR) were plotted across the genome to detect ZLR peaks that reflect segments of homozygosity by descent, which may harbor the mutated gene. In 93% of cases, the causative gene was positioned within a consistent ZLR peak of homozygosity. The number of peaks reflected the degree of inbreeding. We demonstrate that disease-causing homozygous mutations can be detected in single cases from outbred populations within a single ZLR peak of homozygosity as short as 2 Mb, containing an average of only 16 candidate genes. As many specialty clinics have access to cohorts of individuals from outbred populations, and as our approach will result in smaller genetic candidate regions, the new strategy of homozygosity mapping in single outbred individuals will strongly accelerate the discovery of novel recessive disease genes.
MeSH term(s)	DNA Mutational Analysis ; False Positive Reactions ; Family Health ; Female ; Genes, Recessive ; Genetic Markers ; Genetics, Population ; Homozygote ; Humans ; Kidney Diseases, Cystic/genetics ; Male ; Models, Genetic ; Nephrotic Syndrome/genetics ; Pedigree ; Steroids/pharmacology
Chemical Substances	Genetic Markers ; Steroids
Language	English
Publishing date	2009-01-23
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2186725-2
ISSN	1553-7404 ; 1553-7390
ISSN (online)	1553-7404
ISSN	1553-7390
DOI	10.1371/journal.pgen.1000353
Database	MEDical Literature Analysis and Retrieval System OnLINE

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