This is a newly identified acyl-CoA oxidase sequence, most likely a second allele of POX4.

Inactivation of the second allele was demonstrated in five of six cases with truncating mutations and in two other cases.

The primary mechanism of p53 inactivation is believed to be mutation of one allele followed by loss of the second allele.

However, a deletion, transmitted from a healthy parent, may be pathogenic if it overlaps with a mutated second allele inherited from the other healthy parent.

The second allele has been identified previously by our group and other investigators as the cause of Bernard-Soulier syndrome in patients of northern European ancestry.

In one case the proband is homozygous for a novel mutation causing a P704S substitution, while his father's second allele encodes an H412Y mutation.