Pedigree and AP4E1 mutation in P1 and P2.

A). Pedigree of the family. The segregation of the AP4E1 p.R1105X mutation is also indicated. B). Electrophoregram showing the homozygous mutation of P1 with respect to the control sequence. C). Illumina sequencing reads displayed for patient P1. D). Schematic diagram of the structure of AP-4ε, with the delimitation and numbering of the corresponding exons. The other known mutations of the AP4E1 gene and the mutation described here (in red) are also indicated.