Clinical and genetic aspects of hypophosphatasia in Japanese patients

Archives of Disease in Childhood

Volumn 99, Issue 3, 2014, Pages 211-215

  Taketani, Takeshi ^a,b   Onigata, Kazumichi ^b   Kobayashi, Hironori ^b   Mushimoto, Yuichi ^b   Fukuda, Seiji ^b   Yamaguchi, Seiji ^b  

^a SHIMANE UNIVERSITY HOSPITAL   (Japan)

^b SHIMANE UNIVERSITY FACULTY OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BONE DISEASE; ENDOCRINOLOGY; PAEDIATRIC PRACTICE;

ALKALINE PHOSPHATASE; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; HYPOPHOSPHATASIA; INCIDENCE; INFANT; MALE; MUTATION; PROGNOSIS; RETROSPECTIVE STUDIES;

EID: 84894044348     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/archdischild-2013-305037     Document Type: Article

References (21)

1. Whyte MP. Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann N Y Acad Sci 2010;1192: 190-200.
2. Mornet E. Hypophosphatasia. Best Pract Res Clin Rheumatol 2008;22: 113-27.
3. Mornet E, Yvard A, Taillandier A, et al. A molecular-based estimation of the prevalence of hypophosphatasia in the European population. Ann Hum Genet 2011;75: 439-45.
4. Michigami T, Uchihashi T, Suzuki A, 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: 277-82.
5. Ozono K, Michigami T. Hypophosphatasia now draws more attention of both clinicians and researchers: a Commentary on prevalance 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: 174-6.
6. Watanabe A, Karasugi T, Sawai 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: 166-8.
7. Brun-Heath I, Chabrol E, Fox M, et al. A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene. Clin Genet 2008;73: 245-50.
8. Wenkert D, McAlister WH, Coburn SP, et al. Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review). J Bone Miner Res 2011;26: 2389-98.
9. Zurutuza L, Muller F, Gibrat JF, et al. Correlations of genotype and phenotype in hypophosphatasia. Hum Mol Genet 1999;8: 1039-46.
10. Mornet E. Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene. Hum Mutat 2000;15: 309-15.
11. Nishioka T, Tomatsu S, Gutierrez MA, et al. Enhancement of drug delivery to bone: characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide. Mol Genet Metab 2006;88: 244-55.
12. Whyte MP, Greenberg CR, Salman NJ, et al. Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med 2012;366: 904-13.
13. Whyte MP, Kurtzberg J, McAlister WH, et al. Marrow cell transplantation for infantile hypophosphatasia. J Bone Miner Res 2003;18: 624-36.
14. Cahill RA, Wenkert D, Perlman SA, et al. Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts. J Clin Endocrinol Metab 2007;92: 2923-30.
15. Tadokoro M, Kanai R, Taketani T, et al. New bone formation by allogeneic mesenchymal stem cell transplantation in a patient with perinatal hypophosphatasia. J Pediatr 2009;154: 924-30.
16. Fraser D. Hypophosphatasia. Am J Med 1957;22: 730-46.
17. Fonta C, Négyessy L, Renaud L, et al. Areal and subcellular localization of the ubiquitous alkaline phosphatase in the primate cerebral cortex: evidence for a role in neurotransmission. Cereb Cortex 2004;14: 595-609.
18. Fonta C, Negyessy L, Renaud L, et al. Postnatal development of alkaline phosphatase activity correlates with the maturation of neurotransmission in the cerebral cortex. J Comp Neurol 2005;486: 179-96.
19. Négyessy L, Xiao J, Kántor O, et al. Layer-specific activity of tissue non-specific alkaline phosphatase in the human neocortex. Neuroscience 2011;172: 406-18.
20. Hanics J, Barna J, Xiao J, et al. Ablation of TNAP function compromises myelination and synaptogenesis in the mouse brain. Cell Tissue Res 2012;349: 459-71.
21. Ozono K, Yamagata M, Michigami T, et al. Identification of a novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia. J Clin Endocrinol Metab 1996;81: 4458-61.