Substitution 781G>A in the coding sequence affects the last nucleotide of exon 6 of UNC93B1 gene causing the exon 6 to be spliced out. This causes a frameshift in the resulting mis-spliced transcript, starting with the first codon of exon 7 (amino acid position 230) that is erroneously spliced to exon 5, so that a premature stop codon is encountered in exon 9.