Both disclosed a heterozygous, likely pathogenic, SNV in a disintegrin and metalloproteinase with thrombospondin motifs-like protein 2 (ADAMTSL2 c.338 G > T, p.Arg113Leu, https://www.ncbi.nlm.nih.gov/clinvar/variation/1326072/?oq=ADAMTSL2[gene]+AND + c.338 G%3ET[varname]+&m=NM_014694.4(ADAMTSL2):c.338 G%3ET%20(p.Arg113Leu)) that had previously been reported in patients with geleophysic dysplasia (MIM# 231050, https://www.omim.org/entry/231050?search=231050&highlight=231050) as a compound heterozygous or homozygous change71,72. The gene discussed is ADAMTSL2; the disease is geleophysic dysplasia.