CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA;
A number sign (#) is used with this entry because of evidence that the disorder can be caused by loss-of-function mutations in the ATP6V0A2 gene (611716), which encodes the alpha-2 subunit of the V-type H+ ATPase. The occurrence of mutations in the same gene in wrinkly skin syndrome (WSS; 278250) indicates that autosomal recessive cutis laxa type II and some cases of WSS represent variable manifestations of the same genetic defect.
