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
prolekare.web.journal.doi_sk:
https://doi.org/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:
Molecular genetics – Mutation – Teeth – Dentition – Mutation detection – Enzyme replacement therapy – Tooth eruption – Dentistry
Zdroje
1. Mornet E. Hypophosphatasia. Metabolism. 2018; 82, 142–155. doi: 10.1016/j.metabol.2017.08.013 28939177
2. Millán JL, Whyte MP. Alkaline phosphatase and hypophosphatasia. Calcif Tissue Int. 2015; 98(4), 398–416. doi: 10.1007/s00223-015-0079-1 26590809
3. Whyte MP, Zhang F, Wenkert D, McAlister WH, Mack KE, Benigno MC, et al. Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. Bone. 2015, 75, 229–239. doi: 10.1016/j.bone.2015.02.022 25731960
4. Whyte MP. Hypophosphatasia—aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol. 2016, 12(4), 233–246. doi: 10.1038/nrendo.2016.14 26893260
5. Whyte MP, Wenkert D, Zhang F. Hypophosphatasia: Natural history study of 101 affected children investigated at one research center. Bone. 2016, 93, 125–138. doi: 10.1016/j.bone.2016.08.019 27576207
6. Whyte MP. Hypophosphatasia: An overview for 2017. Bone. 2017, 102, 15–25. doi: 10.1016/j.bone.2017.02.011 28238808
7. Bloch-Zupan A. Hypophosphatasia: diagnosis and clinical signs—a dental surgeon perspective. Int J Paediatr Dent. 2016, 26, 426–438. doi: 10.1111/ipd.12232 27030892
8. Research project for hypophosphatasia, research on specific diseases, the ministry of health and welfare, Japan. Diagnostic criteria of hypophosphatasia (In Japanese).
9. van den Bos T, Handoko G, Niehof A, Ryan LM, Coburn SP, Whyte MP, et al. Cementum and dentin in hypophosphatasia. J Dent Res. 2005, 84(11), 1021–1025. doi: 10.1177/154405910508401110 16246934
10. Okawa R, Nakano K, Matsumoto M, Kawabata K, Ooshima T. Oral manifestations of patients with hypophosphatasia. Ped Dent J. 2012, 22(2), 155–162.
11. Mori M, DeArmey SL, Weber TJ, Kishnani PS. Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? Call for a long-term follow-up of premature loss of primary teeth. Bone Rep. 2016, 5, 228–232. doi: 10.1016/j.bonr.2016.08.004 28580391
12. Okawa R, Kitaoka T, Saga K, Ozono K, Nakano K. Report of two dental patients diagnosed with hypophosphatasia. J Clin Case Rep. 2016, 6, 2.
13. Taketani T, Onigata K, Kobayashi H, Mushimoto Y, Fukuda S, Yamaguchi S. Clinical and genetic aspects of hypophosphatasia in Japanese patients. Arch. Dis. Child. 2014, 99(3), 211–215. doi: 10.1136/archdischild-2013-305037 24276437
14. Fauvert D, Brun-Heath I, Lia-Baldini AS, Bellazi L, Taillandier A, Serre JL, et al. Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. BMC Med Genet. 2009, 10, 51. doi: 10.1186/1471-2350-10-51 19500388
15. Ozono K, Michigami T. Hypophosphatasia now draws more attention of both clinicians and researchers: a commentary on Prevalence of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers. J Hum Genet. 2011, 56(3), 174–176. doi: 10.1038/jhg.2011.6 21307860
16. Watanabe A, Karasugi T, Sawai H, Naing BT, Ikegawa S, Orimo H, et al. Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers. J. Hum. Genet.2011, 56(2), 166–168. doi: 10.1038/jhg.2010.161 21179104
17. Michigami T, Uchihashi T, Suzuki A, Tachikawa K, Nakajima S, Ozono K, et al. Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia. Eur J Pediatr. 2005, 164(5), 277–282. doi: 10.1007/s00431-004-1612-9 15660230
18. Okawa R, Miura J, Kokomoto K, Kubota T, Kitaoka T, Ozono K, et al. Early exfoliation of permanent tooth in patient with hypophosphatasia. Ped Dent J. 2017, 27(3), 173–178.
19. Whyte MP, Greenberg CR, Salman NJ, Bober MB, McAlister WH, Wenkert D, et al. Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med. 2012, 366(10), 904–913. doi: 10.1056/NEJMoa1106173 22397652
20. Whyte MP, Madson KL, Phillips D, Reeves AL, McAlister WH, Yakimoski A, et al. Asfotase alfa therapy for children with hypophosphatasia. 2016, JCI Insight. 1(9), e85971. doi: 10.1172/jci.insight.85971 27699270
21. Whyte MP, Rockman-Greenberg C, Ozono K, Riese R, Moseley S, Melian A, et al. Asfotase alfa treatment improves survival for perinatal and infantile hypophosphatasia. J Clin Endocrino. Metab. 2016, 101(1), 334–342.
22. Okazaki Y, Kitajima H, Mochizuki N, Kitaoka T, Michigami T, Ozono K. Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth. Eur J Pediatr. 2016, 175(3), 433–437. doi: 10.1007/s00431-015-2641-2 26459154
23. Kitaoka T, Tajima T, Nagasaki K, Kikuchi T, Yamamoto K, Michigami T, et al. Safety and efficacy with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial. Clin Endocrinol. 2017, 87(1), 10–19.
24. Kishnani PS, Rush ET, Arundel P, Bishop N, Dahir K, Fraser W, et al. Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa. Mol Genet Metab. 2017, 122 (1–2), 4–17. doi: 10.1016/j.ymgme.2017.07.010 28888853
25. Whyte MP. Hypophosphatasia: Enzyme replacement therapy brings new opportunities and new challenges. J Bone Miner Res. 2017, 32(4), 667–675. doi: 10.1002/jbmr.3075 28084648
26. Okawa R, Kokomoto K, Yamamura-Miyazaki N, Michigami T, Nakano K. Oral findings in patient with lethal hypophosphatasia treated with enzyme replacement therapy. Ped Dent J. 2017, 27(3), 153–156.
27. Okawa R, Miura J, Kokomoto K, Nakano K. Evaluation of avulsed primary incisor in 3-year-old girl with hypophosphatasia who received enzyme replacement therapy Ped Dent J. 2018, 28(3), 136–140.
28. The Japanese Society of Pedodontics: The chronology of deciduous and permanent dentition in Japanese children. Jpn J Ped Dent. 1988, 26(1), 1–18 (in Japanese).
29. Japanese Society of Clinical Chemistry. Recommendation for measuring enzyme activity in human serum. Jpn J Clin Chem. 1990, 19, 209–212.
30. Henthorn PS, Raducha M, Fedde KN, Lafferty MA, Whyte MP. Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Proc Natl Acad Sci U S A. 1992, 89(20), 9924–9928. doi: 10.1073/pnas.89.20.9924 1409720
31. Mornet E, Taillandier A, Peyramaure S, Kaper F, Muller F, Brenner R, et al. Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia. Eur J Hum Genet. 1998, 6(4), 308–314. doi: 10.1038/sj.ejhg.5200190 9781036
32. Mornet E, Stura E, Lia-Baldini AS, Stigbrand T, Ménez A, Le Du MH. Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization. J Biol Chem. 2001, 276(33), 31171–31178. doi: 10.1074/jbc.M102788200 11395499
33. Goseki-Sone M, Orimo H, Iimura T, Takagi Y, Watanabe H, Taketa K, et al. Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients. Hum Mutat. 1998, Suppl 1, S263–S267.
34. Taillandier A, Cozien E, Muller F, Merrien Y, Bonnin E, Fribourg C, et al. Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia. Hum Mutat. 2000, 15, 293.
35. Fukushi-Irié M, Ito M, Amaya Y, Amizuka N, Ozawa H, Omura S, et al. Possible interference between tissue-non-specific alkaline phosphatase with an Arg54—>Cys substitution and a counterpart with an Asp277—>Ala substitution found in a compound heterozygote associated with severe hypophosphatasia. Biochem J. 2015, 15, 633–642.
36. Lia-Baldini AS, Muller F, Taillandier A, Gibrat JF, Mouchard M, Robin B, et al. A molecular approach to dominance in hypophosphatasia. Hum Genet. 2001, 109(1), 99–108. doi: 10.1007/s004390100546 11479741
37. Watanabe H, Goseki-Sone M, Orimo H, Hamatani R, Takinami H, Ishikawa I. Function of mutant (G1144A) tissue-nonspecific ALP gene from hypophosphatasia. J Bone Miner Res. 2002, 17(11), 1945–1948. doi: 10.1359/jbmr.2002.17.11.1945 12412800
38. Takinami H, Goseki-Sone M, Watanabe H, Orimo H, Hamatani R, Fukushi-Irie M, et al. The mutant (F310L and V365I) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia. J Med Dent Sci. 2004, 51(1), 67–74. 15137467
39. Goseki-Sone M, Sogabe N, Fukushi-Irie M, Mizoi L, Orimo H, Suzuki T, et al. Functional analysis of the single nucleotide polymorphism (787T>C) in the tissue-nonspecific alkaline phosphatase gene associated with BMD. J Bone Miner Res. 2005, 20(5), 773–782. doi: 10.1359/JBMR.041229 15824850
40. Sogabe N, Oda K, Nakamura H, Orimo H, Watanabe H, Hosoi T, et al. Molecular effects of the tissue-nonspecific alkaline phosphatase gene polymorphism (787T>C) associated with bone mineral density. Biomed Res. 2008, 29(4), 213–219. 18724009
41. Wan J, Zhang L, Liu T, Wang Y. Genetic evaluations of Chinese patients with odontohypophosphatasia resulting from heterozygosity for mutations in the tissue-non-specific alkaline phosphatase gene. Oncotarget. 2017, 8(31), 51569–51577. doi: 10.18632/oncotarget.18093 28881669
42. Wenkert D, McAlister WH, Coburn SP, Zerega JA, Ryan LM, Ericson KL, et al. Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review). J Bone Miner Res. 2011, 26(10), 2389–2398. doi: 10.1002/jbmr.454 21713987
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