Log in or create a free account to read this content
Gain free access to this article, as well as selected content from this journal and more on nature.com
or
References
Zurutuza L, Muller F, Gibrat JF et al: Correlations of genotype and phenotype in hypophosphatasia. Hum Mol Genet 1999; 8: 1039–1046.
Muller HL, Yamazaki M, Michigami T et al: Asp361Val Mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme. J Clin Endocrinol Metab 2000; 85: 743–747.
Lia-Baldini AS, Brun-Heath I, Carrion C et al: A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localisation of the wild-type protein. Hum Genet 2008; 123: 429–432.
Lia-Baldini AS, Muller F, Taillandier A et al: A molecular approach to dominance in hypophosphatasia. Hum Genet 2001; 109: 99–108.
Fauvert D, Brun-Heath I, Lia-Baldini AS 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.
Whyte MP, Teitelbaum SL, Murphy WA, Bergfeld MA, Avioli LV : Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature. Medicine (Baltimore) 1979; 58: 329–347.
Eberle F, Hartenfels S, Pralle H, Kabisch A : Adult hypophosphatasia without apparent skeletal disease: ‘odontohypophosphatasia’ in four heterozygote members of a family. Klin Wochenschr 1984; 62: 371–376.
Eastman JR, Bixler D : Clinical, laboratory, and genetic investigations of hypophosphatasia: support for autosomal dominant inheritance with homozygous lethality. J Craniofac Genet Dev Biol 1983; 3: 213–234.
Spentchian M, Brun-Heath I, Taillandier A et al: Characterisation of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments. Genet Test 2006; 10: 252–257.
Fraser D : Hypophosphatasia. Am J Med 1957; 22: 730–746.
Mornet E, Yvard A, Taillandier A, Fauvert D, Simon-Bouy B : A molecular-based estimation of the prevalence of hypophosphatasia in the European population. Ann Hum Genet 2011; 75: 439–445.
Greenberg CR, Evans JA, McKendry-Smith S et al: Infantile hypophosphatasia: localisation within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers. Am J Hum Genet 1990; 46: 286–292.
Whyte MP, Essmyer K, Geimer M, Mumm S : Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry. J Pediatr 2006; 148: 753–758.
Pauli RM, Modaff P, Sipes SL, Whyte MP : Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken. Am J Med Genet 1999; 86: 434–438.
Moore CA, Curry CJ, Henthorn PS et al: Mild autosomal dominant hypophosphatasia: in utero presentation in two families. Am J Med Genet 1999; 86: 410–415.
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: 2389–2398.
Reibel A, Maniere MC, Clauss F et al: Orodental phenotype and genotype findings in all subtypes of hypophosphatasia. Orphanet J Rare Dis 2009; 4: 6.
Whyte MP, Wenkert D, McAlister WH et al: Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia. J Bone Miner Res 2009; 24: 1493–1505.
Deeb AA, Bruce SN, Morris AA, Cheetham TD : Infantile hypophosphatasia: disappointing results of treatment. Acta Paediatr 2000; 89: 730–733.
Sutton RA, Mumm S, Coburn SP, Ericson KL, Whyte MP : ‘Atypical femoral fractures’ during bisphosphonate exposure in adult hypophosphatasia. J Bone Miner Res 2012; 27: 987–994.
Whyte MP, Mumm S, Deal C : Adult hypophosphatasia treated with teriparatide. J Clin Endocrinol Metab 2007; 92: 1203–1208.
Camacho PM, Painter S, Kadanoff R : Treatment of adult hypophosphatasia with teriparatide. Endocr Pract 2008; 14: 204–208.
Gagnon C, Sims NA, Mumm S et al: Lack of sustained response to teriparatide in a patient with adult hypophosphatasia. J Clin Endocrinol Metab 2010; 95: 1007–1012.
Schalin-Jantti C, Mornet E, Lamminen A, Valimaki MJ : Parathyroid hormone treatment improves pain and fracture healing in adult hypophosphatasia. J Clin Endocrinol Metab 2010; 95: 5174–5179.
Girschick HJ, Seyberth HW, Huppertz HI : Treatment of childhood hypophosphatasia with nonsteroidal antiinflammatory drugs. Bone 1999; 25: 603–607.
Girschick HJ, Schneider P, Haubitz I et al: Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia. Orphanet J Rare Dis 2006; 1: 24.
Millan JL, Narisawa S, Lemire I et al: Enzyme replacement therapy for murine hypophosphatasia. J Bone Miner Res 2008; 23: 777–787.
Whyte MP, Greenberg CR, Salman NJ et al: Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med 2012; 366: 904–913.
Sugano H, Matsumoto T, Miyake K et al: Successful gene therapy in utero for lethal murine hypophosphatasia. Hum Gene Ther 2012; 23: 399–406.
Baumgartner-Sigl S, Haberlandt E, Mumm S 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.
Balasubramaniam S, Bowling F, Carpenter K 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;, doi:10.1007/s10545-009-9012-y.
Hofmann C, Liese J, Schwarz T et al: Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia. Bone 2013; 55: 150–157.
Girschick HJ, Haubitz I, Hiort O, Schneider P : Long-term follow-up of bone mineral density in childhood hypophosphatasia. Joint Bone Spine 2007; 74: 263–269.
Girschick HJ, Mornet E, Beer M, Warmuth-Metz M, Schneider P : Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy. BMC Pediatr 2007; 7: 3.
Wolfish NM, Heick H : Hyperparathyroidism and infantile hypophosphatasia: effect of prednisone and vitamin K therapy. J Pediatr 1979; 95: 1079–1081.
Whyte MP : Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann N Y Acad Sci 2010; 1192: 190–200.
Moulin P, Vaysse F, Bieth E et al: Hypophosphatasia may lead to bone fragility: don't miss it. Eur J Pediatr 2009; 168: 783–788.
Collmann H, Mornet E, Gattenlohner S, Beck C, Girschick H : Neurosurgical aspects of childhood hypophosphatasia. Childs Nerv Syst 2009; 25: 217–223.
Lynch CD, Ziada HM, Buckley LA, O'Sullivan VR, Aherne T, Aherne S : Prosthodontic rehabilitation of hypophosphatasia using dental implants: a review of the literature and two case reports. J Oral Rehabil 2009; 36: 462–468.
Whyte MP : Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. Endocr Rev 1994; 15: 439–461.
Stevenson DA, Carey JC, Coburn SP et al: Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement. J Clin Endocrinol Metab 2008; 93: 3443–3448.
Sinico M, Levaillant JM, Vergnaud A et al: Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images. Prenat Diagn 2007; 27: 222–227.
Acknowledgements
This work was supported by EuroGentest, an EU-FP6 supported NoE, contract number 512148 (EuroGentest Unit 3: ‘Clinical genetics, community genetics and public health’, Workpackage 3.2). This work was supported by grants from the organisation of patients Hypophosphatasie Europe (EM) and from Alexion company (EM).
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Competing interests
The authors declare no conflict of interest.
Rights and permissions
About this article
Cite this article
Mornet, E., Hofmann, C., Bloch-Zupan, A. et al. Clinical utility gene card for: Hypophosphatasia – update 2013. Eur J Hum Genet 22, 572 (2014). https://doi.org/10.1038/ejhg.2013.177
Published:
Issue date:
DOI: https://doi.org/10.1038/ejhg.2013.177
This article is cited by
-
Anabolic actions of parathyroid hormone in a hypophosphatasia mouse model
Osteoporosis International (2022)
-
Prävalenz der Hypophosphatasie bei adulten Patienten in der Rheumatologie
Zeitschrift für Rheumatologie (2022)
-
Genotype–Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia
Calcified Tissue International (2021)
-
Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children
Orphanet Journal of Rare Diseases (2020)
-
Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment
Osteoporosis International (2020)