Affiliation:
1. Department of Pediatrics, Xi’an First Hospital, The First Affiliated Hospital of Northwestern University, China
2. Pucheng County Hospital of Weinan City, Shaanxi Province, China
Abstract
Mutations in dental hypophosphatasia (HPP) have been reported less than those in other types of HPP because the symptoms are mild or the dental lesions are only partial manifestations of other types of HPP. In this case, we observe the clinical manifestation of dental hypoalkaline phosphatase by analyzing the genetic mutation and biochemical parameters in child. The clinical data of the child with odonto HPP were collected and analyzed. The blood samples of the child and his parents were sequenced and verified using Sanger through a specific probe capture and high-throughput second-generation sequencing technology. Major clinical manifestations in the patient were early loss of deciduous teeth, significantly lower serum alkaline phosphatase (ALP) levels, lower active vitamin D, and increased blood phosphorus, but no abnormality was observed in the oral X-ray. Two missense mutations—c.542C>T (p. ser181leu) and c.644 T> C (p.Ile215Thr)—were found in exon 6 of the ALPL gene from the father and mother, respectively. The clinical manifestations of odonto hypophosphatasia were early loss of deciduous teeth and significantly reduced serum ALP levels. Of 2 mutations—c.542C>T (p.ser181leu) and c.644 T> C (p.Ile215Thr)—in the ALPL gene, c.644 T> C (p.Ile215Thr) was a new mutation.