Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 86, Issue 5, Pages 696-706Publisher
CELL PRESS
DOI: 10.1016/j.ajhg.2010.03.004
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Funding
- German Federal Ministry of Education and Research (BMBF) [01GM0880, 01GM0801]
- National Institutes of Health
- American Health Assistance Foundation
- Perot Family Foundation
- Alexander-von-Humboldt Foundation
- German Research Foundation (DFG) [NE826/3-2]
- MRC [G9901217] Funding Source: UKRI
- Medical Research Council [G9901217] Funding Source: researchfish
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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.
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