Fig. 4

Map of ITGA3 mutations and related clinical features. a Schematic of ITGA3 gene and localization of the identified mutations. Above the diagram the six reported mutations, all in homozygous state (each framed by a different colour rectangle); below the two different mutations (within rectangles with purples lines) identified in the herein described sibs. b The body compartments (skin, lung and kidney) affected in the patients with ITGA3 mutations. Bars, in the same colour used to highlight the mutations, extend across the three main deranged systems in each patient. The dotted dark green bar of patient 1 [6] indicates the lack of clinical skin disease with the presence of hair and nail signs. Worth noting, no renal involvement is observed in the sibs herein studied, who are the only ITGA3-mutated patients surviving beyond the first/second year of life