Identification of a novel homozygous variant in the alkaline phosphate (ALPL) gene associated with hypophosphatasia

Abstract

The lack of awareness of patient risk factors, failure to obtain adequate family history, was discussed by clinical experience in prenatal testing of hypophosphatasia with a novel variant in the ALPL gene identified in the index case of the family.

Keywords: genetic counseling; hypophosphatasia; prenatal diagnosis.