Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry

Journal of Pediatrics

Volumn 148, Issue 6, 2006, Pages 753-758

  Whyte, Michael P ^a   Essmyer, Kevan ^a   Geimer, Michael ^a   Mumm, Steven ^a  

^a SHRINERS HOSPITAL FOR CHILDREN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE ISOENZYME; ALKALINE PHOSPHATASE TISSUE ISOENZYME; ARGININE; CYSTEINE; UNCLASSIFIED DRUG;

AFRICAN AMERICAN; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONVALESCENCE; ENZYME ACTIVE SITE; ETHNOLOGY; EXON; FAMILIAL DISEASE; FAMILY; GENE SEQUENCE; GENETIC CODE; HOMOZYGOSITY; HUMAN; HYPOPHOSPHATASIA; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; SIBLING;

AFRICAN AMERICANS; ALKALINE PHOSPHATASE; ARGININE; CHILD, PRESCHOOL; CYSTEINE; ELECTROPHORESIS, GEL, TWO-DIMENSIONAL; HOMOZYGOTE; HUMANS; HYPOPHOSPHATASIA; INFANT, NEWBORN; ISOENZYMES; MALE; MUTATION, MISSENSE; PEDIGREE; PREVALENCE; RNA SPLICE SITES;

EID: 33745053865     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2006.01.031     Document Type: Article

References (53)

1. Whyte M.P. Hypophosphatasia. In: Scriver C.R., Beaudet A.L., Sly W.S., Valle D., Childs B., Kinzler K.W., et al. (Eds). The metabolic and molecular bases of inherited disease. (8th ed) (2001), McGraw-Hill, New York 5313-5329
2. Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 2000. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/. Accessed November 14, 2005.
3. Whyte M.P. Hypophosphatasia. nature's window on alkaline phosphatase function in man. In: Bilezikian J.P., Raisz L.G., and Rodan G.A. (Eds). Principles of bone biology. (2nd ed) (2002), Academic Press, San Diego 1229-1248
4. 31P-Nuclear magnetic resonance spectroscopy (NMRS) in hypophosphatasia. diagnostic urine profile indicating multiple new natural substrates for bone alkaline phosphatase. [abstract]. J Bone Miner Res 15 Suppl 1 (2000) S483
5. Fleisch H., Russell R.G., and Straumann F. Effect of pyrophosphate on hydroxyapatite and its implications in calcium homeostasis. Nature 212 (1966) 901-903
6. Heinonen J.K. Biological role of inorganic pyrophosphate (2001), Kluwer Academic Publishers, Norwell, Mass
7. Hessle L., Johnson K.A., Anderson H.C., Narisawa S., Sali A., Goding J.W., et al. Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization. Proc Natl Acad Sci USA 99 (2002) 9445-9449
8. Weiss M.J., Cole D.E., Ray K., Whyte M.P., Lafferty M.A., Mulivor R.A., et al. A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc Natl Acad Sci USA 85 (1988) 7666-7669
9. Henthorn P.S., Raducha M., Fedde K.N., Lafferty M.A., and Whyte M.P. 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 (1992) 9924-9928
10. Mornet E. Hypophosphatasia. the mutations in the tissue-nonspecific alkaline phosphatase gene. Hum Mutat 15 (2000) 309-315
11. Mumm S., Jones J., Finnegan P., Henthorn P.S., Podgornik M., and Whyte M.P. Denaturing gradient gel electrophoresis analysis of the tissue non-specific alkaline phosphatase isoenzyme gene in hypophosphatasia. Mol Genet Metab 75 (2002) 143-153
12. Mornet E. Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database [database on the internet]. Yvelines (France): SESEP Laboratory at the University of Versailles-Saint Quentin. c2004. [updated 2005 January 25; cited 2005 May 13]. Available from: http://www.sesep.uvsq.fr/Database.html.
13. Lia-Baldini A.S., Muller F., Taillandier A., Gibrat J.F., Mouchard M., Robin B., et al. A molecular approach to dominance in hypophosphatasia. Hum Genet 109 (2001) 99-108
14. Whyte M.P., McAlister W.H., Patton L.S., Magill H.L., Fallon M.D., Lorentz Jr. W.B., and Herrod H.G. Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma. results in three additional patients. J Pediatr 105 (1984) 926-933
15. Whyte M.P., Magill H.L., Fallon M.D., and Herrod H.G. Infantile hypophosphatasia: normalization of circulating bone alkaline phosphatase activity followed by skeletal remineralization. Evidence for an intact structural gene for tissue nonspecific alkaline phosphatase. J Pediatr 108 (1986) 82-88
16. Moore C.A., Ward J.C., Rivas M.L., Magill H.L., and Whyte M.P. Infantile hypophosphatasia. autosomal recessive transmission to two related sibships. Am J Med Genet 36 (1990) 15-22
17. Yusa N., Watanabe K., Yoshida S., Shirafuji N., Shimomura S., Tani K., et al. Transcription factor Sp3 activates the liver/bone/kidney-type alkaline phosphatase promoter in hematopoietic cells. J Leukoc Biol 68 (2000) 772-777
18. Kim E.E., and Wyckoff H.W. Reaction mechanism of alkaline phosphatase based on crystal structures. Two-metal ion catalysis. J Mol Biol 218 (1991) 449-464
19. Le Du M.H., Stigbrand T., Taussig M.J., Menez A., and Stura E.A. Crystal structure of alkaline phosphatase from human placenta at 1.8 A resolution. Implication for a substrate specificity. J Biol Chem 276 (2001) 9158-9165
20. Cotton R.G., and Scriver C.R. Proof of "disease causing" mutation. Hum Mutat 12 (1998) 1-3
21. Di Mauro S., Manes T., Hessle L., Kozlenkov A., Pizauro J.M., Hoylaerts M.F., and Millán J.L. Kinetic characterization of hypophosphatasia mutations with physiological substrates. J Bone Miner Res 17 (2002) 1383-1391
22. Rathbun J.C. Hypophosphatasia. A new developmental anomaly. Am J Dis Child 75 (1948) 822-831
23. Fraser D. Hypophosphatasia. Am J Med 22 (1957) 730-746
24. Currarino G., Neuhauser E.B., Reyersbach G.C., and Sobel E.H. Hypophosphatasia. Am J Roentgenol Radium Ther Nucl Med 78 (1957) 392-419
25. Aimakhu V.E., and Taylor J.R. Congenital hypophosphatasia in a Nigerian neonate. West Afr Med J Niger Pract 16 (1967) 204-206
26. Rasmussen K. Phosphorylethanolamine and hypophosphatasia. Dan Med Bull 15 Suppl 2 (1968) 1-112
27. Faas F.H., Wadkins C.L., Daniels J.S., Davis G.R., Carter W.J., and Wynn J.O. Hyperparathyroidism in an elderly adult with hypophosphatasia. Clin Orthop Relat Res 101 (1974) 216-219
28. Kozlowski K., Sutcliffe J., Barylak A., Harrington G., Kemperdick H., Nolte K., et al. Hypophosphatasia. Review of 24 cases. Pediatr Radiol 5 (1976) 103-117
29. Mulivor R.A., Mennuti M., Zackai E.H., and Harris H. Prenatal diagnosis of hypophosphatasia; genetic, biochemical, and clinical studies. Am J Hum Genet 30 (1978) 271-282
30. Brun-Health I., Taillandier A., Serre J.L., and Mornet E. Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations. Mol Genet Metab 84 (2005) 273-277
31. 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 15 (2000) 293
32. Weinstein R.S., and Bell N.H. Diminished rates of bone formation in normal black adults. N Engl J Med 319 (1988) 1698-1701
33. Bryant R.J., Wastney M.E., Martin B.R., Wood O., McCabe G.P., Morshidi M., et al. Racial differences in bone turnover and calcium metabolism in adolescent females. J Clin Endocrinol Metab 88 (2003) 1043-1047
34. Hui S.L., Dimeglio L.A., Longcope C., Peacock M., McClintock R., Perkins A.J., et al. Difference in bone mass between black and white American children. attributable to body build, sex hormone levels, or bone turnover?. J Clin Endocrinol Metab 88 (2003) 642-649
35. 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 6 (1998) 308-314
36. Burchard E.G., Ziv E., Coyle N., Gomez S.L., Tang H., Karter A.J., Mountain J.L., Perez-Stable E.J., Sheppard D., and Risch N. The importance of race and ethnic background in biomedical research and clinical practice. N Engl J Med 348 (2003) 1170-1175
37. Whyte M.P., and Vrabel L.A. Infantile hypophosphatasia. complementation analysis with skin fibroblast heterokaryons suggests a defect(s) at a single gene locus. (abstract). Clin Res 33 (1984) 332A
38. Weiss M.J., Ray K., Henthorn P.S., Lamb B., Kadesch T., and Harris H. Structure of the human liver/bone/kidney alkaline phosphatase gene. J Biol Chem 263 (1988) 12002-12010
39. Greenberg C.R., Taylor C.L., Haworth J.C., Seargeant L.E., Philipps S., Triggs-Raine B., et al. A homoallelic Gly317-> Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites. Genomics 17 (1993) 215-217
40. Michigami T., Uchihashi T., Suzuki A., Tachikawa K., Nakajima S., and Ozono K. 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 164 (2005) 277-282
41. Orimo H., Goseki-Sone M., Inoue M., Tsubakio Y., Sakiyama T., and Shimada T. 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 (2002) 28-33
42. Herasse M., Spentchian M., Taillandier A., and Mornet E. Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients. Eur J Hum Genet 10 (2002) 666-668
43. Hirschhorn R. In vivo reversion to normal of inherited mutations in humans. J Med Genet 40 (2003) 721-728
44. Zurutuza L., Muller F., Gibrat J.F., Taillandier A., Simon-Bouy B., Serre J.L., et al. Correlations of genotype and phenotype in hypophosphatasia. Hum Mol Genet 8 (1999) 1039-1046
45. Mornet E., Stura E., Lia-Baldini A.S., Stigbrand T., Menez A., and Le Du M.H. Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization. J Biol Chem 276 (2001) 31171-31178
46. Millan J.L., and Fishman W.H. Biology of human alkaline phosphatases with special reference to cancer. Crit Rev Clin Lab Sci 32 (1995) 1-39
47. Bossi M., Hoylaerts M.F., and Millan J.L. Modifications in a flexible surface loop modulate the isozyme-specific properties of mammalian alkaline phosphatases. J Biol Chem 268 (1993) 25409-25416
48. Wu L.N., Genge B.R., Lloyd G.C., and Wuthier R.E. Collagen-binding proteins in collagenase-released matrix vesicles from cartilage. Interaction between matrix vesicle proteins and different types of collagen. J Biol Chem 266 (1991) 1195-1203
49. Whyte M.P., Landt M., Ryan L.M., Mulivor R.A., Henthorn P.S., Fedde K.N., et al. Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5′-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy. J Clin Invest 95 (1995) 1440-1445
50. Whyte M.P., Kurtzberg J., McAlister W.H., Mumm S., Podgornik M.N., Coburn S.P., et al. Marrow cell transplantation for infantile hypophosphatasia. J Bone Miner Res 18 (2003) 624-636
51. Cahill R., Perlman S., McAlister W.H., Mumm S., and Whyte M.P. Successful transplantation of infantile hypophosphatasia using bone fragments and cultured osteoblasts. [abstract]. J Bone Mineral Res 20 Suppl 1 (2005) S42
52. Deal C.L., and Whyte M.P. Adult hypophosphatasia treated with teriparatide. [abstract]. J Bone Mineral Res 20 Suppl 1 (2005) S100
53. Wenkert D., Podgornik M.N., Coburn S.P., Ryan L.M., Mumm S., and Whyte M.P. Dietary phosphate restriction therapy for hypophosphatasia. preliminary observations. [abstract]. J Bone Miner Res 17 (2002) S384