Figure 1. Genetic results of the NPS family

A: Pedigree of a Spanish family with nail-patella syndrome (NPS). Filled squares and circles denote NPS-affected males and females, respectively. Open squares and circles represent males and females without NPS. A diagonal line through the symbols marks a deceased individual. An arrow indicates the index patient (VI-4). The following symbols were used: wild-type allele (+)2889delG allele (-), and 372A>G allele (x), correspond to a, and allele, respectively. B: Denaturing gradient gel electrophoresis (DGGE) of the PCR fragment of exon 3. The different electrophoretic profiles correspond to carriers of the following: 289delG/WT (IV-1, IV-2, IV-3, V-1, V-2, V-6, and VI-2); WT/372A>G (V-3, VI-1, VI-6, VI-7); 289delG/372A gt G (V-5, V-9, VI-4); WT/WT (V-4, V-8, VI-3) and 372A>G/372A>G (VI-5). WT=wild type. C: DNA genomic sequencing of exon 3 of LMX1B showing the 289delG mutation (left) and a control DNA (right).