TRPV4 and Menkes disease: Exon 15 of the TRPV4 gene is a hotspot for MD-associated variants.[2] While mutations in exon 11 associated with MD are rare, with only 2 mutation sites were reported in a study by Andreucci et al[19] in 2011 as c.1780C > A; p.R594S and c.1781G > A; p.R594H.