@article{26e4db89492a4c768378e7b69bc6c14e,
title = "LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome",
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.",
author = "Yun Li and Barbara Pawlik and Nursel Elcioglu and Mona Aglan and H{\"u}lya Kayserili and G{\"o}khan Yigit and Ferda Percin and Frances Goodman and Gudrun N{\"u}rnberg and Asim Cenani and Jill Urquhart and Chung, {Boi Dinh} and Samira Ismail and Khalda Amr and Aslanger, {Ayca D.} and Christian Becker and Christian Netzer and Pete Scambler and Wafaa Eyaid and Hanan Hamamy and Jill Clayton-Smith and Raoul Hennekam and Peter N{\"u}rnberg and Joachim Herz and Temtamy, {Samia A.} and Bernd Wollnik",
note = "Funding Information: We are thankful to all family members that participated in this study, to Bernhard Zabel for referral of patients, to Esther Milz for excellent technical assistance, and to Christian Kubisch, Brunhilde Wirth, and Karin Boss for critical reading of the manuscript. This work was supported by the German Federal Ministry of Education and Research (BMBF) by grant numbers 01GM0880 (SKELNET) and 01GM0801 (E-RARE network CRANIRARE) to B.W. J.H. is supported by grants from the National Institutes of Health, the American Health Assistance Foundation, the Perot Family Foundation, and the Wolfgang-Paul Program of the Alexander-von-Humboldt Foundation. C.N. was supported by the German Research Foundation (DFG), grant NE826/3-2. ",
year = "2010",
month = may,
day = "14",
doi = "10.1016/j.ajhg.2010.03.004",
language = "English (US)",
volume = "86",
pages = "696--706",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "5",
}