[Clinical picture and molecular analysis in a familial case of Nail-Patella Syndrome--identification of a new mutation in LMX1B gene].

The Nail-Patella Syndrome (NPS) (OMIM: 161200) is an autosomal dominant disorder characterized by skeletal malformations, such as: patellar aplasia/ hypoplasia, iliac horns on X-ray as well as nail dysplasia, renal and ocular abnormalities. Mutations in the gene encoding transcription factor LMX1B, mapped on the long arm of chromosome 9 (9q34), are responsible for the clinical phenotype of NPS. A familial case (in the mother and her son) of Nail-Patella Syndrome is presented here. DNA analysis has shown a new missense mutation in exon 5 of LMX1B gene (745C-G) leading to a change of glutamine into glutamic acid (Q245E) in the coded protein. Characteristic clinical features, seen in both patients, are discussed within the context of molecular analysis results.