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Severe Cenani-Lenz syndrome caused by loss of LRP4 function.
|Title||Severe Cenani-Lenz syndrome caused by loss of LRP4 function.|
|Publication Type||Journal Article|
|Year of Publication||2013|
|Authors||Kariminejad A, Stollfuß B, Li Y, Bögershausen N, Boss K, Hennekam RCM, Wollnik B|
|Journal||American journal of medical genetics. Part A|
|Date Published||2013 Jun|
Limb patterning and growth are complex embryonic processes in which the elaborately orchestrated interplay of diverse endocrine and paracrine factors is crucial to limb integrity. LRP4 is a lipoprotein receptor known for its regulatory effects on LRP5- and LRP6-mediated Wnt signaling, a pathway that plays a pivotal role in limb development. Recessive mutations in LRP4 have been shown to cause Cenani-Lenz syndrome, which is characterized by severe limb malformations, an unusual face, and renal abnormalities. We report on a child with severe Cenani-Lenz syndrome caused by a novel homozygous nonsense mutation in LRP4. The severity of the phenotype in a patient with absent residual LRP4 function may point to a genotype-phenotype correlation.
|Alternate Journal||Am. J. Med. Genet. A|