COL17A1 and Angelman syndrome: Also, Amato et al. reported a case of Angelman syndrome (5,5 Mb deletion of 15q11.2–q13.1) with a coexisting intermediate junctional epidermolysis bullosa (COL17A1, c.3766 + 1G > A, homozygous) and autosomal recessive deafness type 57 (PDZD7, c.883C > T, homozygous) (17).