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Age-related penetrance of hereditary atypical hemolytic uremic syndrome

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Age-related penetrance of hereditary atypical hemolytic uremic syndrome. / Sullivan, Maren; Rybicki, Lisa A; Winter, Aurelia; Hoffmann, Michael M; Reiermann, Stefanie; Linke, Hannah; Arbeiter, Klaus; Patzer, Ludwig; Budde, Klemens; Hoppe, Bernd; Zeier, Martin; Lhotta, Karl; Bock, Andreas; Wiech, Thorsten; Gaspert, Ariana; Fehr, Thomas; Woznowski, Magdalena; Berisha, Gani; Malinoc, Angelica; Goek, Oemer-Necmi; Eng, Charis; Neumann, Hartmut P H.

in: ANN HUM GENET, Jahrgang 75, Nr. 6, 01.11.2011, S. 639-47.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Sullivan, M, Rybicki, LA, Winter, A, Hoffmann, MM, Reiermann, S, Linke, H, Arbeiter, K, Patzer, L, Budde, K, Hoppe, B, Zeier, M, Lhotta, K, Bock, A, Wiech, T, Gaspert, A, Fehr, T, Woznowski, M, Berisha, G, Malinoc, A, Goek, O-N, Eng, C & Neumann, HPH 2011, 'Age-related penetrance of hereditary atypical hemolytic uremic syndrome', ANN HUM GENET, Jg. 75, Nr. 6, S. 639-47. https://doi.org/10.1111/j.1469-1809.2011.00671.x

APA

Sullivan, M., Rybicki, L. A., Winter, A., Hoffmann, M. M., Reiermann, S., Linke, H., Arbeiter, K., Patzer, L., Budde, K., Hoppe, B., Zeier, M., Lhotta, K., Bock, A., Wiech, T., Gaspert, A., Fehr, T., Woznowski, M., Berisha, G., Malinoc, A., ... Neumann, H. P. H. (2011). Age-related penetrance of hereditary atypical hemolytic uremic syndrome. ANN HUM GENET, 75(6), 639-47. https://doi.org/10.1111/j.1469-1809.2011.00671.x

Vancouver

Sullivan M, Rybicki LA, Winter A, Hoffmann MM, Reiermann S, Linke H et al. Age-related penetrance of hereditary atypical hemolytic uremic syndrome. ANN HUM GENET. 2011 Nov 1;75(6):639-47. https://doi.org/10.1111/j.1469-1809.2011.00671.x

Bibtex

@article{0dc3125f047e4e899278590e92531c9b,
title = "Age-related penetrance of hereditary atypical hemolytic uremic syndrome",
abstract = "Hereditary atypical hemolytic uremic syndrome (aHUS), a dramatic disease frequently leading to dialysis, is associated with germline mutations of the CFH, CD46, or CFI genes. After identification of the mutation in an affected aHUS patient, single-site gene testing of relatives is the preventive care perspective. However, clinical data for family counselling are scarce. From the German-Speaking-Countries-aHUS-Registry, 33 index patients with mutations were approached for permission to offer relatives screening for their family-specific mutations and to obtain demographic and clinical data. Mutation screening was performed using direct sequencing. Age-adjusted penetrance of aHUS was calculated for each gene in index cases and in mutation-positive relatives. Sixty-one relatives comprising 41 parents and 20 other relatives were enrolled and mutations detected in 31/61. In total, 40 research participants had germline mutations in CFH, 19 in CD46 and in 6 CFI. Penetrance at age 40 was markedly reduced in mutation-positive relatives compared to index patients overall with 10% versus 67% (P < 0.001); 6% vs. 67% (P < 0.001) in CFH mutation carriers and 21% vs. 70% (P= 0.003) in CD46 mutation carriers. Age-adjusted penetrance for hereditary aHUS is important to understand the disease, and if replicated in the future, for genetic counselling.",
keywords = "Adolescent, Adult, Aged, Aging, Antigens, CD46, Child, Complement Factor H, Complement Factor I, Female, Hemolytic-Uremic Syndrome, Humans, Male, Middle Aged, Mutation, Penetrance",
author = "Maren Sullivan and Rybicki, {Lisa A} and Aurelia Winter and Hoffmann, {Michael M} and Stefanie Reiermann and Hannah Linke and Klaus Arbeiter and Ludwig Patzer and Klemens Budde and Bernd Hoppe and Martin Zeier and Karl Lhotta and Andreas Bock and Thorsten Wiech and Ariana Gaspert and Thomas Fehr and Magdalena Woznowski and Gani Berisha and Angelica Malinoc and Oemer-Necmi Goek and Charis Eng and Neumann, {Hartmut P H}",
note = "{\textcopyright} 2011 The Authors Annals of Human Genetics {\textcopyright} 2011 Blackwell Publishing Ltd/University College London.",
year = "2011",
month = nov,
day = "1",
doi = "10.1111/j.1469-1809.2011.00671.x",
language = "English",
volume = "75",
pages = "639--47",
journal = "ANN HUM GENET",
issn = "0003-4800",
publisher = "Wiley-Blackwell",
number = "6",

}

RIS

TY - JOUR

T1 - Age-related penetrance of hereditary atypical hemolytic uremic syndrome

AU - Sullivan, Maren

AU - Rybicki, Lisa A

AU - Winter, Aurelia

AU - Hoffmann, Michael M

AU - Reiermann, Stefanie

AU - Linke, Hannah

AU - Arbeiter, Klaus

AU - Patzer, Ludwig

AU - Budde, Klemens

AU - Hoppe, Bernd

AU - Zeier, Martin

AU - Lhotta, Karl

AU - Bock, Andreas

AU - Wiech, Thorsten

AU - Gaspert, Ariana

AU - Fehr, Thomas

AU - Woznowski, Magdalena

AU - Berisha, Gani

AU - Malinoc, Angelica

AU - Goek, Oemer-Necmi

AU - Eng, Charis

AU - Neumann, Hartmut P H

N1 - © 2011 The Authors Annals of Human Genetics © 2011 Blackwell Publishing Ltd/University College London.

PY - 2011/11/1

Y1 - 2011/11/1

N2 - Hereditary atypical hemolytic uremic syndrome (aHUS), a dramatic disease frequently leading to dialysis, is associated with germline mutations of the CFH, CD46, or CFI genes. After identification of the mutation in an affected aHUS patient, single-site gene testing of relatives is the preventive care perspective. However, clinical data for family counselling are scarce. From the German-Speaking-Countries-aHUS-Registry, 33 index patients with mutations were approached for permission to offer relatives screening for their family-specific mutations and to obtain demographic and clinical data. Mutation screening was performed using direct sequencing. Age-adjusted penetrance of aHUS was calculated for each gene in index cases and in mutation-positive relatives. Sixty-one relatives comprising 41 parents and 20 other relatives were enrolled and mutations detected in 31/61. In total, 40 research participants had germline mutations in CFH, 19 in CD46 and in 6 CFI. Penetrance at age 40 was markedly reduced in mutation-positive relatives compared to index patients overall with 10% versus 67% (P < 0.001); 6% vs. 67% (P < 0.001) in CFH mutation carriers and 21% vs. 70% (P= 0.003) in CD46 mutation carriers. Age-adjusted penetrance for hereditary aHUS is important to understand the disease, and if replicated in the future, for genetic counselling.

AB - Hereditary atypical hemolytic uremic syndrome (aHUS), a dramatic disease frequently leading to dialysis, is associated with germline mutations of the CFH, CD46, or CFI genes. After identification of the mutation in an affected aHUS patient, single-site gene testing of relatives is the preventive care perspective. However, clinical data for family counselling are scarce. From the German-Speaking-Countries-aHUS-Registry, 33 index patients with mutations were approached for permission to offer relatives screening for their family-specific mutations and to obtain demographic and clinical data. Mutation screening was performed using direct sequencing. Age-adjusted penetrance of aHUS was calculated for each gene in index cases and in mutation-positive relatives. Sixty-one relatives comprising 41 parents and 20 other relatives were enrolled and mutations detected in 31/61. In total, 40 research participants had germline mutations in CFH, 19 in CD46 and in 6 CFI. Penetrance at age 40 was markedly reduced in mutation-positive relatives compared to index patients overall with 10% versus 67% (P < 0.001); 6% vs. 67% (P < 0.001) in CFH mutation carriers and 21% vs. 70% (P= 0.003) in CD46 mutation carriers. Age-adjusted penetrance for hereditary aHUS is important to understand the disease, and if replicated in the future, for genetic counselling.

KW - Adolescent

KW - Adult

KW - Aged

KW - Aging

KW - Antigens, CD46

KW - Child

KW - Complement Factor H

KW - Complement Factor I

KW - Female

KW - Hemolytic-Uremic Syndrome

KW - Humans

KW - Male

KW - Middle Aged

KW - Mutation

KW - Penetrance

U2 - 10.1111/j.1469-1809.2011.00671.x

DO - 10.1111/j.1469-1809.2011.00671.x

M3 - SCORING: Journal article

C2 - 21906045

VL - 75

SP - 639

EP - 647

JO - ANN HUM GENET

JF - ANN HUM GENET

SN - 0003-4800

IS - 6

ER -