Clinical and ALPL Gene Mutations Analysis in an Early Onset Chinese Odontohypophosphatasia Patient

Abstract

Objective: To describe a Chinese case with novel frame shift ALPL gene mutation that results in infantile onset odontohypophosphatasia. Methods: Clinical data and genomic DNA of the patient and his parents were collected. Alkaline phosphatase gene (ALPL)of the patient and his parents were PCR following with sequencing. Results: The patient had premature exfoliation of primary teeth at 11 month, and showed no sign of development retardation or rickets in 3 years follow-up. Serum alkaline phosphatase was found significantly decreased. Sequence analysis of ALPL gene reveal a de novo heterozygous missense mutation in exon 10 c.1162T>C(p.Y371H)which has been reported previously. In addition, a heterozygous frameshift mutation in exon 12 c.1532insC(p. L511Pfs*272) was found in the patient and his mother. This inserted base causes a frame shift voiding the original stop codon. As a consequence, the original protein composed of 524 amino acids is translated into a protein with 783 amino acids. Conclusion: We report an early onset Chinese Odontohypophosphatasia patient, and a novel frame-shift mutation in exon 12, c.1532insC, p.L511Pfs*272)