Universität zu Köln

Sullivan, Maren, Rybicki, Lisa A., Winter, Aurelia, Hoffmann, Michael M., Reiermann, Stefanie, Linke, Hannah, Arbeiter, Klaus, Patzer, Ludwig, Budde, Klemens ORCID: 0000-0002-7929-5942, Hoppe, Bernd, Zeier, Martin, Lhotta, Karl, Bock, Andreas, Wiech, Thorsten ORCID: 0000-0003-4053-1474, Gaspert, Ariana, Fehr, Thomas, Woznowski, Magdalena, Berisha, Gani, Malinoc, Angelica, Goek, Oemer-Necmi, Eng, Charis ORCID: 0000-0002-3693-5145 and Neumann, Hartmut P. H. (2011). Age-Related Penetrance of Hereditary Atypical Hemolytic Uremic Syndrome. Ann. Hum. Genet., 75. S. 639 - 648. HOBOKEN: WILEY. ISSN 1469-1809

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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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Sullivan, Maren UNSPECIFIED UNSPECIFIED UNSPECIFIED Rybicki, Lisa A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Winter, Aurelia UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoffmann, Michael M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Reiermann, Stefanie UNSPECIFIED UNSPECIFIED UNSPECIFIED Linke, Hannah UNSPECIFIED UNSPECIFIED UNSPECIFIED Arbeiter, Klaus UNSPECIFIED UNSPECIFIED UNSPECIFIED Patzer, Ludwig UNSPECIFIED UNSPECIFIED UNSPECIFIED Budde, Klemens UNSPECIFIED orcid.org/0000-0002-7929-5942 UNSPECIFIED Hoppe, Bernd UNSPECIFIED UNSPECIFIED UNSPECIFIED Zeier, Martin UNSPECIFIED UNSPECIFIED UNSPECIFIED Lhotta, Karl UNSPECIFIED UNSPECIFIED UNSPECIFIED Bock, Andreas UNSPECIFIED UNSPECIFIED UNSPECIFIED Wiech, Thorsten UNSPECIFIED orcid.org/0000-0003-4053-1474 UNSPECIFIED Gaspert, Ariana UNSPECIFIED UNSPECIFIED UNSPECIFIED Fehr, Thomas UNSPECIFIED UNSPECIFIED UNSPECIFIED Woznowski, Magdalena UNSPECIFIED UNSPECIFIED UNSPECIFIED Berisha, Gani UNSPECIFIED UNSPECIFIED UNSPECIFIED Malinoc, Angelica UNSPECIFIED UNSPECIFIED UNSPECIFIED Goek, Oemer-Necmi UNSPECIFIED UNSPECIFIED UNSPECIFIED Eng, Charis UNSPECIFIED orcid.org/0000-0002-3693-5145 UNSPECIFIED Neumann, Hartmut P. H. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-486860
DOI:	10.1111/j.1469-1809.2011.00671.x
Journal or Publication Title:	Ann. Hum. Genet.
Volume:	75
Page Range:	S. 639 - 648
Date:	2011
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1469-1809
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language FACTOR-H-AUTOANTIBODIES; COMPLEMENT FACTOR-I; MOLECULAR-BASIS; MUTATIONS; GENE; CD46; HUS; MCP; IMPACT; CFH Multiple languages Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/48686