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:
CreatorsEmailORCIDORCID Put Code
Sullivan, MarenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rybicki, Lisa A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Winter, AureliaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoffmann, Michael M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Reiermann, StefanieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Linke, HannahUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Arbeiter, KlausUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Patzer, LudwigUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Budde, KlemensUNSPECIFIEDorcid.org/0000-0002-7929-5942UNSPECIFIED
Hoppe, BerndUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zeier, MartinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lhotta, KarlUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bock, AndreasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wiech, ThorstenUNSPECIFIEDorcid.org/0000-0003-4053-1474UNSPECIFIED
Gaspert, ArianaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fehr, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Woznowski, MagdalenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Berisha, GaniUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Malinoc, AngelicaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Goek, Oemer-NecmiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eng, CharisUNSPECIFIEDorcid.org/0000-0002-3693-5145UNSPECIFIED
Neumann, Hartmut P. H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
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:
KeywordsLanguage
FACTOR-H-AUTOANTIBODIES; COMPLEMENT FACTOR-I; MOLECULAR-BASIS; MUTATIONS; GENE; CD46; HUS; MCP; IMPACT; CFHMultiple languages
Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/48686

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