Perinatal hypophosphatasia caused by uniparental isodisomy

This is the first description of perinatal HPP caused by UPD. This report also emphasizes the low recurrence risk of a non-Mendelian inheritance pattern in UPD and the value of determining parental genotypes with homozygous mutations in a patient to confirm whether the condition is caused by UPD or not, even when the mutation is detected as a hot spot, as described in the literature.