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Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types
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Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types
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Journal Article
Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types
2019
Overview
Hypophosphatasia (HPP) is a rare and intractable metabolic bone disease caused by mutations in the ALPL gene. Here, we undertook a nationwide survey of HPP in Japan, specifically regarding the prominent genetic and dental manifestations of odonto (n = 16 cases) and other (termed \"non-odonto\") (n = 36 cases) types. Mean serum alkaline phosphatase (ALP) values in odonto-type patients were significantly greater than those of non-odonto-type patients (P<0.05). Autosomal dominant and autosomal recessive inheritance patterns were detected, respectively, in 89% of odonto-type and 96% of non-odonto-type patients. The ALPL \"c.1559delT\" mutation, associated with extremely low ALP activity, was found in approximately 70% of cases. Regarding dental manifestations, all patients classified as odonto-type showed early exfoliation of the primary teeth significantly more frequently than patients classified as non-odonto-type (100% vs. 56%; P<0.05). Tooth hypomineralisation was detected in 42% of non-odonto-type patients, but not in any odonto-type patients (0%; P<0.05). Collectively, these results suggest that genetic and dental manifestations of patients with odonto-type and non-odonto-type HPP are significantly different, and these differences should be considered during clinical treatment of patients with HPP.
Publisher
Public Library of Science,Public Library of Science (PLoS)
Subject
/ Age
/ Alkaline Phosphatase - blood
/ Alkaline Phosphatase - genetics
/ Autosomal recessive inheritance
/ Enzymes
/ Female
/ Genes
/ Heredity
/ Humans
/ Hypophosphatasia - epidemiology
/ Hypophosphatasia - pathology
/ Male
/ Medicine
/ Medicine and Health Sciences
/ Mutation
/ Patients
/ Teeth
/ Tooth Demineralization - blood
/ Tooth Demineralization - epidemiology
/ Tooth Demineralization - genetics
