Fig. 1

The three siblings affected by complicated HSP due to AP4M1 compound heterozygous mutation. a Note facial coarse features, convergent bilateral strabismus, prominent and bulbous nose, and wide mouth in all the three siblings; (b) In the left panel familial pedigree (the asterisks specify the sequenced individuals with the arrow pointing to the proband) with black and white symbols indicating affected and unaffected individuals, respectively; in the right panel electropherograms illustrating the AP4M1 variants identified in our family; (c) A schematic representation of the AP4M1 gene and protein depicting the location of the mutations found in our family (in red) and those previously reported in the literature (in black) for this gene (MIM#602296), and highlighting the MHD, which is a protein-protein interaction module. HSP = Hereditary Spastic Paraplegia. MHD = mu homology domain