Nail-patella syndrome (NPS) is an autosomal dominant genetic condition characterised by dysplastic nails, skeletal deformities and potential kidney involvement. It is caused by mutations in the LMX1B gene. In this case, we report a proband and her son, both affected by NPS. The proband presented with kidney failure and exhibited classical NPS deformities that had gone undiagnosed previously. As her son also had similar skeletal deformities, genetic testing for NPS was done, which revealed a novel missense genetic defect in the LMX1B gene. Interestingly, neither the parents nor siblings of the proband showed symptoms of NPS, and genetic analysis of the parents did not show the same genetic variant, thus implying a de novo genetic defect in the proband. This case highlights the importance of genetic testing and early detection in diagnosing and managing NPS.
Sinha et al. (Sun,) studied this question.