title: Severe Cenani-Lenz syndrome caused by loss of LRP4 function.
abstract: 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.
authors: Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
authors: Ariana
authors: A
authors: Kariminejad
authors: Barbara
authors: B
authors: Stollfuß
authors: Yun
authors: Y
authors: Li
authors: Nina
authors: N
authors: Bögershausen
authors: Karin
authors: K
authors: Boss
authors: Raoul C M
authors: RC
authors: Hennekam
authors: Bernd
authors: B
authors: Wollnik
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D018389:Codon, Nonsense; D056726:Genetic Association Studies; D006720:Homozygote; D006801:Humans; D007223:Infant; D026502:LDL-Receptor Related Proteins / Q000235:genetics* / Q000378:metabolism; D017880:Limb Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D017422:Sequence Analysis, DNA; D015398:Signal Transduction; D013576:Syndactyly / Q000175:diagnosis / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D026502:LDL-Receptor Related Proteins; C551781:LRP4 protein, human