LRP4 Mutations Alter Wnt/beta-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome

2010 | journal article; research paper. A publication with affiliation to the University of Göttingen.

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​LRP4 Mutations Alter Wnt/beta-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome​
Li, Y. ; Pawlik, B.; Elcioglu, N. H.; Aglan, M.; Kayserili, H.; Yigit, G.   & Percin, E. F. et al.​ (2010) 
American journal of human genetics86(5) pp. 696​-706​.​ DOI: https://doi.org/10.1016/j.ajhg.2010.03.004 

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Authors
Li, Yun ; Pawlik, Barbara; Elcioglu, Nursel H.; Aglan, Mona; Kayserili, Hülya; Yigit, Gökhan ; Percin, E. Ferda; Goodman, Frances; Nürnberg, Gudrun; Cenani, Asim; Urquhart, Jill E.; Chung, Boi-Dinh; Ismail, Samira; Amr, Khalda; Aslanger, Ayca D.; Becker, Christian; Netzer, Christian; Scambler, Pete; Eyaid, Wafaa; Hamamy, Hanan; Clayton-Smith, Jill; Hennekam, Raoul C. M.; Nürnberg, Peter; Herz, Joachim; Temtamy, Samia A.; Wollnik, Bernd 
Abstract
Cenani-Lenz syndrome (CLS) is an autosomal-recessive congenital disorder affecting distal limb development. It is characterized mainly by syndactyly and/or oligodactyly and is now shown to be commonly associated with kidney anomalies. We used a homozygosity-mapping approach to map the CLS1 locus to chromosome 11p11.2-q13.1. By sequencing candidate genes, we identified recessive LRP4 mutations in 12 families with CLS. LRP4 belongs to the low-density lipoprotein (LDL) receptor-related proteins (LRPs), which are essential for various developmental processes. LRP4 is known to antagonize LRP6-mediated activation of canonical Wnt signaling, a function that is lost by the identified mutations. Our findings increase the spectrum of congenital anomalies associated with abnormal lipoprotein receptor-dependent signaling.
Issue Date
2010
Journal
American journal of human genetics 
ISSN
0002-9297

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