Autosomal Dominant Pseudohypoaldosteronism Type 1 in an Infant with Salt Wasting Crisis Associated with Urinary Tract Infection and Obstructive Uropathy

Figure 2

Schematic of a deletion spanning exons 3–5 in our patient (as shown in red bar) compared to other single exons deletions detected by quantitative real-time PCR using exon-spanning primers (as shown in blue vertical line) in exon 3 (families PHA1-27, PHA1-28, and PHA1-29), exon 4 (family PHA1-40), and exon 8 (families PHA1-33 and PHA1-49), as reported by Pujo et al. in 2007 [13]. Deletion map corresponds to NR3C2 isoform 1 (NM_000901.4), as indicated by black arrow.