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Haploinsufficiency for AAGAB causes clinically heterogeneous
forms of punctate palmoplantar keratoderma  Nature genetics 
2012;44(11):10.1038/ng.2444. Palmoplantar keratodermas (PPKs)
are a group of disorders that are diagnostically and
therapeutically problematic in dermatogenetics1-3. Punctate PPKs
are characterized by circumscribed hyperkeratotic lesions on
palms and soles with considerable heterogeneity. In 18 families
with autosomal dominant punctate PPK (OMIM #148600), we report
heterozygous loss-of-function mutations in AAGAB, encoding
alpha- and gamma-adaptin binding protein p34, at a previously
linked locus on 15q22. p34, a cytosolic protein with a Rab-like
GTPase domain, was shown to bind both clathrin adaptor protein
complexes, indicative of a role in membrane traffic.
Ultrastucturally, lesional epidermis showed abnormalities in
intracellular vesicle biology. Immunohistochemistry showed hyp