Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia

Bone

Volumn 55, Issue 1, 2013, Pages 150-157

  Hofmann, C ^a   Liese, J ^a   Schwarz, T ^a   Kunzmann, S ^a   Wirbelauer, J ^a   Nowak, J ^a   Hamann, J ^b   Girschick, H ^c   Graser, S ^a   Dietz, K ^a   Zeck, S ^a   Jakob, F ^a   Mentrup, B ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b Children's Hospital St Marien   (Germany)

^c VIVANTES HOSPITAL   (Germany)

Author keywords

ALPL; Encephalopathy; Hypophosphatasia; Tissue nonspecific alkaline phosphatase

Indexed keywords

ALKALINE PHOSPHATASE; ANTICONVULSIVE AGENT; PYRIDOXINE;

ALPL GENE; ARTICLE; BRAIN; BRAIN CORTEX; BRAIN DISEASE; BRAIN RADIOGRAPHY; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; DISEASE SEVERITY; ENZYME ACTIVITY; GENE MUTATION; GENE SILENCING; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; HYPOMINERALIZATION; HYPOPHOSPHATASIA; IN VITRO STUDY; INFANT; MALE; MINERALIZATION; NEUROLOGICAL COMPLICATION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PROTEIN FUNCTION; RESPIRATORY FAILURE; SIMULATION; WHITE MATTER;

ALKALINE PHOSPHATASE; BRAIN DISEASES; FATAL OUTCOME; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HEK293 CELLS; HETEROZYGOTE; HUMANS; HYPOPHOSPHATASIA; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MUTANT PROTEINS; MUTATION; PROTEIN TRANSPORT; SUBCELLULAR FRACTIONS;

EID: 84877623262     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2013.02.017     Document Type: Article

References (44)

1. Rathbun J.C. Hypophosphatasia; a new developmental anomaly. Am J Dis Child 1948, 75:822-831.
2. Mornet E. Hypophosphatasia. Orphanet J Rare Dis 2007, 2:40.
3. Girschick H.J., Schneider P., Kruse K., Huppertz H.I. Bone metabolism and bone mineral density in childhood hypophosphatasia. Bone 1999, 25:361-367.
4. Girschick H.J., Seyberth H.W., Huppertz H.I. Treatment of childhood hypophosphatasia with nonsteroidal antiinflammatory drugs. Bone 1999, 25:603-607.
5. Whyte M.P., Greenberg C.R., Salman N.J., Bober M.B., McAlister W.H., Wenkert D., et al. Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med 2012, 366:904-913.
6. Balasubramaniam S., Bowling F., Carpenter K., Earl J., Chaitow J., Pitt J., et al. Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability. J Inherit Metab Dis 2010, 10.1007/s10545-009-9012-y.
7. Baumgartner-Sigl S., Haberlandt E., Mumm S., Scholl-Burgi S., Sergi C., Ryan L., et al. Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene. Bone 2007, 40:1655-1661.
8. Fonta C., Negyessy L., Renaud L., Barone P. Postnatal development of alkaline phosphatase activity correlates with the maturation of neurotransmission in the cerebral cortex. J Comp Neurol 2005, 486:179-196.
9. Negyessy L., Xiao J., Kantor O., Kovacs G.G., Palkovits M., Doczi T.P., et al. Layer-specific activity of tissue non-specific alkaline phosphatase in the human neocortex. Neuroscience 2011, 172:406-418.
10. Diez-Zaera M., Diaz-Hernandez J.I., Hernandez-Alvarez E., Zimmermann H., Diaz-Hernandez M., Miras-Portugal M.T. Tissue-nonspecific alkaline phosphatase promotes axonal growth of hippocampal neurons. Mol Biol Cell 2011, 22:1014-1024.
11. Hanics J., Barna J., Xiao J., Millan J.L., Fonta C., Negyessy L. Ablation of TNAP function compromises myelination and synaptogenesis in the mouse brain. Cell Tissue Res 2012, 349(2):459-472.
12. 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, 6:308-314.
13. Mentrup B., Marschall C., Barvencik F., Amling M., Plendl H., Jakob F., et al. Functional characterization of a novel mutation localized in the start codon of the tissue-nonspecific alkaline phosphatase gene. Bone 2011, 48:1401-1408.
14. Ito M., Amizuka N., Ozawa H., Oda K. Retention at the cis-Golgi and delayed degradation of tissue-non-specific alkaline phosphatase with an Asn153-> Asp substitution, a cause of perinatal hypophosphatasia. Biochem J 2002, 361:473-480.
15. Fukushi M., Amizuka N., Hoshi K., Ozawa H., Kumagai H., Omura S., et al. Intracellular retention and degradation of tissue-nonspecific alkaline phosphatase with a Gly317- > Asp substitution associated with lethal hypophosphatasia. Biochem Biophys Res Commun 1998, 246:613-618.
16. Collmann H., Mornet E., Gattenlohner S., Beck C., Girschick H. Neurosurgical aspects of childhood hypophosphatasia. Childs Nerv Syst 2009, 25:217-223.
17. Collmann H., Sorensen N., Krauss J. Hydrocephalus in craniosynostosis: a review. Childs Nerv Syst 2005, 21:902-912.
18. Whyte M.P., Mahuren J.D., Fedde K.N., Cole F.S., McCabe E.R., Coburn S.P. Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase. J Clin Invest 1988, 81:1234-1239.
19. Amadasi A., Bertoldi M., Contestabile R., Bettati S., Cellini B., di Salvo M.L., et al. Pyridoxal 5'-phosphate enzymes as targets for therapeutic agents. Curr Med Chem 2007, 14:1291-1324.
20. Weiss M.J., Ray K., Henthorn P.S., Lamb B., Kadesch T., Harris H. Structure of the human liver/bone/kidney alkaline phosphatase gene. J Biol Chem 1988, 263:12002-12010.
21. Narisawa S., Frohlander N., Millan J.L. Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia. Dev Dyn 1997, 208:432-446.
22. Beck C., Morbach H., Wirth C., Beer M., Girschick H.J. Whole-body MRI in the childhood form of hypophosphatasia. Rheumatol Int 2011, 31:1315-1320.
23. Brun-Heath I., Chabrol E., Fox M., Drexler K., Petit C., Taillandier A., 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, 73:245-250.
24. Baxter P., Griffiths P., Kelly T., Gardner-Medwin D. Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient. Dev Med Child Neurol 1996, 38:998-1006.
25. Gospe S.M., Hecht S.T. Longitudinal MRI findings in pyridoxine-dependent seizures. Neurology 1998, 51:74-78.
26. Mills P.B., Footitt E.J., Mills K.A., Tuschl K., Aylett S., Varadkar S., et al. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain 2010, 133:2148-2159.
27. Alderliesten T., de Vries L.S., Benders M.J., Koopman C., Groenendaal F. MR imaging and outcome of term neonates with perinatal asphyxia: value of diffusion-weighted MR imaging and (1)H MR spectroscopy. Radiology 2011, 261:235-242.
28. Cowan F., Rutherford M., Groenendaal F., Eken P., Mercuri E., Bydder G.M., et al. Origin and timing of brain lesions in term infants with neonatal encephalopathy. Lancet 2003, 361:736-742.
29. de Vries L.S., Cowan F.M. Evolving understanding of hypoxic-ischemic encephalopathy in the term infant. Semin Pediatr Neurol 2009, 16:216-225.
30. Rutherford M., Srinivasan L., Dyet L., Ward P., Allsop J., Counsell S., et al. Magnetic resonance imaging in perinatal brain injury: clinical presentation, lesions and outcome. Pediatr Radiol 2006, 36:582-592.
31. Yadav M.C., Simao A.M., Narisawa S., Huesa C., McKee M.D., Farquharson C., et al. Loss of skeletal mineralization by the simultaneous ablation of PHOSPHO1 and alkaline phosphatase function: a unified model of the mechanisms of initiation of skeletal calcification. J Bone Miner Res 2011, 26:286-297.
32. 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 2001, 109:99-108.
33. Mumm S., Jones J., Finnegan P., Henthorn P.S., Podgornik M.N., Whyte M.P. Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia. Mol Genet Metab 2002, 75:143-153.
34. Taillandier A., Zurutuza L., Muller F., Simon-Bouy B., Serre J.L., Bird L., et al. 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. Mutations in brief no. 217. Online. Hum Mutat 1999, 13:171-172.
35. Fedde K.N., Lane C.C., Whyte M.P. Alkaline phosphatase is an ectoenzyme that acts on micromolar concentrations of natural substrates at physiologic pH in human osteosarcoma (SAOS-2) cells. Arch Biochem Biophys 1988, 264:400-409.
36. Hooper N.M. Glycosyl-phosphatidylinositol anchored membrane enzymes. Clin Chim Acta 1997, 266:3-12.
37. Ishida Y., Komaru K., Ito M., Amaya Y., Kohno S., Oda K. Tissue-nonspecific alkaline phosphatase with an Asp(289)-> Val mutation fails to reach the cell surface and undergoes proteasome-mediated degradation. J Biochem 2003, 134:63-70.
38. Brun-Heath I., Ermonval M., Chabrol E., Xiao J., Palkovits M., Lyck R., et al. Differential expression of the bone and the liver tissue non-specific alkaline phosphatase isoforms in brain tissues. Cell Tissue Res 2010, 343:521-536.
39. Kermer V., Ritter M., Albuquerque B., Leib C., Stanke M., Zimmermann H. Knockdown of tissue nonspecific alkaline phosphatase impairs neural stem cell proliferation and differentiation. Neurosci Lett 2010, 485:208-211.
40. Narisawa S., Wennberg C., Millan J.L. Abnormal vitamin B6 metabolism in alkaline phosphatase knock-out mice causes multiple abnormalities, but not the impaired bone mineralization. J Pathol 2001, 193:125-133.
41. Deracinois B., Duban-Deweer S., Pottiez G., Cecchelli R., Karamanos Y., Flahaut C. TNAP and EHD1 are over-expressed in bovine brain capillary endothelial cells after the re-induction of blood-brain barrier properties. PLoS One 2012, 7:e48428.
42. Burnstock G., Krugel U., Abbracchio M.P., Illes P. Purinergic signalling: from normal behaviour to pathological brain function. Prog Neurobiol 2011, 95:229-274.
43. Weisman G.A., Ajit D., Garrad R., Peterson T.S., Woods L.T., Thebeau C., et al. Neuroprotective roles of the P2Y(2) receptor. Purinergic Signal 2012, 8:559-578.
44. Fredholm B.B., Chen J.F., Cunha R.A., Svenningsson P., Vaugeois J.M. Adenosine and brain function. Int Rev Neurobiol 2005, 63:191-270.