A Case of Hypophosphatasia that Was Overlooked for a Long Time in a Patient with a Novel Duplication Mutation in ALPL

Authors

  • Hisashi Kawashima
  • Atsuko Sasame
  • Yoko Ogaki
  • Takayuki Nakayama
  • Hironobu Okuno

Abstract

We report a case of hypophosphatasia that was overlooked for a long time in a patient with a novel mutation in the ALPL gene, coding for tissue-nonspecific alkaline phosphatase. A 49-year-old man who had been experiencing frequent fractures since childhood showed a low serum alkaline phosphatase level in a routine health checkup. His bone mineral density was also low. Analysis of his ALPL gene showed that he was heterozygous for c.1171dup (p.Arg391ProfsTer14), which was a frameshift variant. From these results, he was diagnosed as having hypophosphatasia caused by a novel mutation.

Downloads

Published

2024-07-31

How to Cite

Kawashima, H., Sasame, A., Ogaki, Y., Nakayama, T., & Okuno, H. (2024). A Case of Hypophosphatasia that Was Overlooked for a Long Time in a Patient with a Novel Duplication Mutation in ALPL. Archives of Clinical and Medical Case Reports, 8(4), 155–159. Retrieved from https://fortunejournals.org/ojs/index.php/acmcr/article/view/22953

Issue

Vol. 8 No. 4 (2024): Volume 8, Issue 4

Section

Articles