| First Author | Li Y | Year | 2010 |
| Journal | Am J Hum Genet | Volume | 86 |
| Issue | 5 | Pages | 696-706 |
| PubMed ID | 20381006 | Mgi Jnum | J:169202 |
| Mgi Id | MGI:4940003 | Doi | 10.1016/j.ajhg.2010.03.004 |
| Citation | Li Y, et al. (2010) LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. Am J Hum Genet 86(5):696-706 |
| abstractText | 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. |
