PRKG2 and spondylometaphyseal dysplasia: In family 1, WGS and subsequent Sanger sequencing uncovered a homozygous pathogenic PRKG2 variant, NM_006259.3:c.2282dup (p.Asp761Glufs*34; online supplemental figure 1) in three brothers referred with spondylometaphyseal dysplasia (figure 1A).