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

Endocrinology, Genetics and Metabolism Center, Beijing Children’s Hospital, Capital Medical University, Beijing, PR China

*Corresponding author:

Chunxiu Gong

Endocrinology

Genetics and Metabolism Center

Beijing Children’s Hospital

Capital Medical University

Beijing 100045, PR China

Email: chunxiugong@bch.com.cn

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 frame-shift 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).

Keywords: odontohypophosphatasia; ALPL; gene mutation.

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