Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types


Autoři: Rena Okawa aff001;  Kazuma Kokomoto aff001;  Taichi Kitaoka aff002;  Takuo Kubota aff002;  Atsushi Watanabe aff003;  Takeshi Taketani aff004;  Toshimi Michigami aff005;  Keiichi Ozono aff002;  Kazuhiko Nakano aff001
Působiště autorů: Department of Pediatric Dentistry, Osaka University Graduate School of Dentistry, Osaka, Japan aff001;  Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan aff002;  Division of Clinical Genetics, Kanazawa University Hospital, Ishikawa, Japan aff003;  Department of Pediatrics, Shimane University Faculty of Medicine, Shimane, Japan aff004;  Department of Pediatric Nephrology and Metabolism, and Department of Bone and Mineral Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan aff005
Vyšlo v časopise: PLoS ONE 14(10)
Kategorie: Research Article
doi: 10.1371/journal.pone.0222931

Souhrn

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.

Klíčová slova:

Dentition – Molecular genetics – Mutation – Mutation detection – Teeth – Enzyme replacement therapy – Tooth eruption – Dentistry


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PLOS One


2019 Číslo 10

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