A case report of odonto-hypophosphatasia with a novel variant in the ALPL gene

Yuji Oto; Daiki Suzuki; Tsubasa Morita; Takeshi Inoue; Akihisa Nitta; Nobuyuki Murakami; Yuuka Abe; Yoshinobu Hamada; Tomoyuki Akiyama; Tomoyo Matsubara

doi:10.1515/jpem-2023-0549

Artikel

A case report of odonto-hypophosphatasia with a novel variant in the ALPL gene

Yuji Oto , Daiki Suzuki , Tsubasa Morita , Takeshi Inoue , Akihisa Nitta , Nobuyuki Murakami , Yuuka Abe , Yoshinobu Hamada , Tomoyuki Akiyama und Tomoyo Matsubara

Veröffentlicht/Copyright: 5. Februar 2024

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Aus der Zeitschrift Journal of Pediatric Endocrinology and Metabolism Band 37 Heft 3

Abstract

Objectives

Hypophosphatasia (HPP) is a rare skeletal dysplasia caused by variants in the alkaline phosphatase (ALPL) gene. More than 400 pathogenic variants of the ALPL gene have been registered in the ALPL gene variant database. Here, we describe the case of a Japanese child with odonto-hypophsphatasia (odonto-HPP) and a novel ALPL variant.

Case presentation

At the age of 2 years and 1 month, he prematurely lost one deciduous tooth, with the root intact, when he fell and hit his face lightly. Three months later, he lost another adjacent deciduous tooth without incentive. His serum alkaline phosphatase (ALP) level was 72 U/L. His urine phosphoethanolamine (PEA) level was extremely high at 938 μmol/mg·Cre. The serum pyridoxal 5′-phosphaye (PLP) level was 255.9 nmol/L. Based on the clinical symptoms and laboratory findings, the patient was clinically diagnosed with odonto-HPP. Genetic analysis of the ALPL gene revealed a heterozygous variant (NM_000478.6:c.1151C>A, p.Thr384Lys).

Conclusions

We report a case of odonto-HPP with a novel variant in the ALPL gene. HPP is a rare disease, and the heterozygous mutation in the ALPL gene highlights the novelty of this case.

Keywords: odonto-hypophosphatasia; missense variant; ALPL gene

Corresponding author: Yuji Oto, Department of Pediatrics, Dokkyo Medical University Saitama Medical Center, 2-1-50 Minamikoshigaya, Koshigaya City, Saitama 343-8555, Japan, Phone: +81 48 965 1111, Fax: +81 48 965 8363, E-mail: yuji-oto@dokkyomed.ac.jp

Acknowledgments

The authors are grateful to the patient for his kind contribution to this study. We thank the patient’s parents for considering to the publication of this report. We would like to thank Editage (www.editage.jp) for English language editing.

Research ethics: Not applicable.
Informed consent: Written informed consent was obtained from the parents of the patient for the publication of this report.
Author contributions: The authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: The authors state no conflict of interest.
Research funding: None declared.
Data availability: Not applicable.

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Received: 2023-12-13

Accepted: 2024-01-16

Published Online: 2024-02-05

Published in Print: 2024-03-25

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Artikel in diesem Heft

https://doi.org/10.1515/jpem-2023-0549

Schlagwörter für diesen Artikel

odonto-hypophosphatasia; missense variant; ALPL gene