Mutation analysis of LMX1B gene in nail-patella syndrome patients

Nail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal do minant inheritance, has been studied for >100 years. Recent evidence shows that NPS is the result of mutations in the LIM-homeodomain gene LMX1B. To d etermine whether specific LMX1B mutations are associated with different asp ects of the NPS phenotype, we screened a cohort of 41 NPS families for LMX1 B mutations. A total of 25 mutations were identified in 37 families. The na ture of the mutations supports the hypothesis that NPS is the result of hap loin-sufficiency for LMX1B. There was no evidence of correlation between as pects of the NPS phenotype and specific mutations.