In addition to these clinical features, a heterozygous loss of function pathogenic mutation in the LMX1B gene, which is located on the long arm of chromosome 9 in the 9q34.1 locus and encodes LIM homeobox transcription factor 1-beta (LMX1B), is identified in about 95% of patients with NPS [1, 2]. This evidence concerns the gene LMX1B and nail-patella syndrome.