Severe Cenani-Lenz syndrome caused by loss of LRP4 function.

TitleSevere Cenani-Lenz syndrome caused by loss of LRP4 function.
Publication TypeJournal Article
Year of Publication2013
AuthorsKariminejad A, Stollfuß B, Li Y, Bögershausen N, Boss K, Hennekam RCM, Wollnik B
JournalAmerican journal of medical genetics. Part A
Date Published2013 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 JournalAm. J. Med. Genet. A