Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia

European Journal of Pediatrics

Volumn 164, Issue 5, 2005, Pages 277-282

  Michigami, Toshimi ^a   Uchihashi, Takayuki ^a   Suzuki, Akira ^a   Tachikawa, Kanako ^a   Nakajima, Shigeo ^b   Ozono, Keiichi ^b  

^a RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^b OSAKA UNIVERSITY   (Japan)

Author keywords

Alkaline phosphatase; Genotype phenotype; Hypophosphatasia; Infantile form

Indexed keywords

ALKALINE PHOSPHATASE; MUTANT PROTEIN; TISSUE NONSPECIFIC ALKALINE PHOSPHATASE; UNCLASSIFIED DRUG;

ADOLESCENT; ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; ENZYME ACTIVITY; FEMALE; GENE ACTIVITY; GENE INACTIVATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPOPHOSPHATASIA; INFANT; INFANT DISEASE; JAPAN; MALE; MUTATIONAL ANALYSIS; NEWBORN; PERINATAL DEVELOPMENT; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN ANALYSIS;

ALKALINE PHOSPHATASE; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD, PRESCHOOL; FEMALE; GENOTYPE; HUMANS; HYPOPHOSPHATASIA; INFANT; INFANT, NEWBORN; JAPAN; MALE; MUTATION, MISSENSE; PHENOTYPE; SEQUENCE DELETION;

EID: 18044375153     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-004-1612-9     Document Type: Article

References (26)

1. Antonarakis SE, the Nomenclature Working Group (1998) Recommendations for a nomenclature system for human gene mutations. Hum Mutat 11: 1-3
2. Barcia JP, Strife CF, Langman CB (1997) Infantile hypophosphatasia: treatment options to control hypercalcemia, hypercalciuria, and chronic bone demineralization. J Pediatr 130: 825-828
3. Cai G, Michigami T, Yamamoto T, Yasui N, Satomura K, Yamagata M, Shima M, Nakajima S, Mushiake S, Okada S, Ozono K (1998) Analysis of localization of mutated tissue-nonspecific alkaline phosphatase proteins associated with neonatal hypophosphatasia using green fluorescent protein chimeras. J Clin Endocrinol Metab 83: 3936-3942
4. Henthorn PS, Whyte MP (1992) Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia. Clin Chem 38: 2501-2505
5. Henthorn PS, Raducha M, Fedde KN, Lafferty MA, Whyte MP (1992) 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 USA 89: 9924-9928
6. Herasse M, Spentchian M, Taillandier A, Mornet E (2002) Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients. Eur J Hum Genet 10: 666-668
7. Lia-Baldini AS, Muller F, Taillandier A, Gibrat JF, Mouchard M, Robin B, Simon-Bouy B, Serre JL, Aylsworth AS, Bieth E, Delanote S, Freisinger P, Hu JC, Krohn HP, Nunes ME, Mornet E (2001) A molecular approach to dominance in hypophosphatasia. Hum Genet 109: 99-108
8. Lowry OH, Roberts NR, Wu ML, Hixon WS, Crawford EJ (1954) The quantitative histochemistry of brain. II. Enzyme measurements. J Biol Chem 207: 19-37
9. Mochizuki H, Saito M, Michigami T, Ohashi H, Koda N, Yamaguchi S, Ozono K (2000) Severe hypercalcemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the TNSALP gene. Eur J Pediatr 159: 375-379
10. Moore CA, Curry CJR, Henthorn PS, Smith JA, Smith JC, O'Lague P, Coburn SP, Weaver DD, Whyte MP(1999) Mild autosomal dominant hypophosphatasia: in utero presentation in two families. Am J Med Genet 86: 410-415
11. Mornet E (2000) Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene. Hum Mutat 15: 309-315
12. Mornet E, Taillandier A, Peyramaure S, Kaper F, Muller F, Brenner R, Bussiere P, Freisinger P, Godard J, Le Merrer M, Oury JF, Plauchu H, Puddu R, Rival JM, Superti-Furga A, Touraine RL, Serre JL, Simon-Bouy B (1998) Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia. Eur J Hum Genet 6: 308-314
13. Müller HL, Yamazaki M, Michigami T, Kageyama T, Schönau E, Schneider P, Ozono K (2000) Asp361Val mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme. J Clin Endocrinol Metab 85: 743-747
14. Oestreich AE, Bofinger MK (1989) Prominent transverse (Bowdler) bone spurs as a diagnostic clue in a case of neonatal hypophosphatasia without metaphyseal irregularity. Pediatr Radiol 19: 341-342
15. Orimo H, Hayashi Z, Watanabe A, Hirayama T, Hirayama T, Shimada T (1994) Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia. Hum Mol Genet 3: 1683-1684
16. Orimo H, Goseki-Sone M, Inoue M, Tsubakio Y, Sakiyama T, Shimada T (2002) Importance of deletion of T at nucleotide 1559 in the tissue-nonspecific alkaline phosphatase gene in Japanese patients with hypophosphatasia. J Bone Miner Metab 20: 28-33
17. Ozono K, Yamagata M, Michigami T, Nakajima S, Sakai N, Cai G, Satomura K, Yasui N, Okada S, Nakayama M (1996) Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia. J Clin Endocrinol Metab 81: 4458-4461
18. Pauli RM, Modaff P Sipes SL, Whyte MP(1999) Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken. Am J Med Genet 86: 434-438
19. Sergi C, Mornet E, Troeger J, Voigtlaender T (2001) Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648 + 1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Am J Med Genet 103: 235-240
20. Spentchian M, Merrien Y, Herasse M, Dobbie Z, Glaser D, Holder SE, Ivarsson SA, Kostiner D, Mansour S, Norman A, Roth J, Stipoljev F, Taillemite JL, van der Smagt JJ, Serre JL, Simon-Bouy B, Taillandier A, Mornet E (2003) Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene. Hum Mutat 22: 105-106
21. Taillandier A, Zurutuza L, Muller F, Simon-Bouy B, Serre JL, Bird L, Brenner R, Boute O, Cousin J, Gaillard D, Heidemann PH, Steinmann B, Wallot M, Mornet E (1999) Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Hum Mutat 13: 171-172
22. Unger S, Mornet E, Mundlos S, Blaser S, Cole DE (2002) Severe cleidocranial dysplasia can mimic hypophosphatasia. Eur J Pediatr 161: 623-626
23. Weiss MJ, Henthorn PS, Lafferty MA, Slaughter C, Raducha M, Harris H (1986) Isolation and characterization of a cDNA encoding a human liver/bone/kidney-type alkaline phosphatase. Proc Natl Acad Sci USA 83: 7182-7186
24. Whyte MP (1994) Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. Endocr Rev 15: 439-461
25. Whyte MP, Kurtzberg J, McAlister WH, Mumm S, Podgornik MN, Coburn SP, Ryan LM, Miller CR, Gottesman GS, Smith AK, Douville J, Waters-Pick B, Armstrong RD, Martin PL (2003) Marrow cell transplantation for infantile hypophosphatasia. J Bone Miner Res 18: 624-636
26. Zurutuza L, Muller F, Gibrat JF, Taillandier A, Simon-Bouy B, Serre JL, Mornet E (1999) Correlations of genotype and phenotype in hypophosphatasia. Hum Mol Genet 8: 1039-1046