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P. Henthorn, M. Whyte (1995)
Infantile hypophosphatasia: Successful prenatal assessment by testing for tissue‐non‐specific alkaline phosphatase isoenzyme gene mutationsPrenatal Diagnosis, 15
P. Henthorn, M. Raducha, K. Fedde, M. Lafferty, M. Whyte (1992)
Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.Proceedings of the National Academy of Sciences of the United States of America, 89
(1995)
The Metabolic and Molecular Basis of Inherited Disease, 7th Edition
S. Iqbal, A. Brain, Timothy Reynolds, M. Penny, S. Holland (1998)
Relationship between serum alkaline phosphatase and pyridoxal-5'-phosphate levels in hypophosphatasia.Clinical science, 94 2
A. Taillandier, L. Zurutuza, F. Muller, B. Simon‐Bouy, J. Serre, L. Bird, R. Brenner, O. Boute, J. Cousin, D. Gaillard, P. Heidemann, B. Steinmann, M. Wallot, E. Mornet (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 hypophosphatasiaHuman Mutation, 13
H. Orimo, E. Nakajima, Z. Hayashi, K. Kijima, A. Watanabe, Hisako Tenjin, T. Araki, T. Shimada (1996)
FIRST‐TRIMESTER PRENATAL MOLECULAR DIAGNOSIS OF INFANTILE HYPOPHOSPHATASIA IN A JAPANESE FAMILYPrenatal Diagnosis, 16
J. Eastman, D. Bixler (1982)
Lethal and mild hypophosphatasia in half-sibs.Journal of craniofacial genetics and developmental biology, 2 1
R. Mulivor, D. Boccelli, H. Harris (1985)
Quantitative analysis of alkaline phosphatases in serum and amniotic fluid: comparison of biochemical and immunologic assays.The Journal of laboratory and clinical medicine, 105 3
(1988)
Role of phosphatases in the regulation of vitamin B6 metabolism in hypophosphatasia and other disorders
H. Orimo, M. Goseki‐Sone, Seiji Sato, Takashi Shimada (1997)
Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP exon amplification.Genomics, 42 2
K. Ozono, M. Yamagata, T. Michigami, S. Nakajima, N. Sakai, Guiming Cai, Kenichi Satomura, Natsuo Yasui, S. Okada, Masahiro Nakayama (1996)
Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia.The Journal of clinical endocrinology and metabolism, 81 12
Fraser (1957)
HypophosphatasiaAm J Med, 22
E. Mornet, A. Taillandier, S. Peyramaure, F. Kaper, F. Muller, R. Brenner, P. Bussière, P. Freisinger, J. Godard, M. Merrer, J. Oury, H. Plauchu, R. Puddu, J. Rival, A. Superti-Furga, R. Touraine, J. Serre, B. Simon‐Bouy (1998)
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasiaEuropean Journal of Human Genetics, 6
M. Whyte, J. Mahuren, S. Coburn, Michael Landt, Lawrence Ryan, Richard Mulivor, Paula Henthom, K. Fedde, J. Mahuren, Stephen Cobum (1995)
Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy.The Journal of clinical investigation, 95 4
M. Weiss, David COLEt, K. Ray, Michael WHYTEt, M. Lafferty, R. Mulivor, H. Harris (1988)
A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.Proceedings of the National Academy of Sciences of the United States of America, 85 20
S. Sørensen, H. Flodgaard, E. Sørensen (1978)
Serum alkaline phosphatase, serum pyrophosphatase, phosphorylethanolamine and inorganic pyrophosphate in plasma and urine. A genetic and clinical study of hypophosphatasia.Monographs in human genetics, 10
M. Whyte, J. Mahuren, L. Vrabel, S. Coburn (1985)
Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism.The Journal of clinical investigation, 76 2
Mariko Fukushi, Norio Amizuka, Kazuto Hoshi, H. Ozawa, H. Kumagai, Satoshi Omura, Yoshio Misumi, Yukio Ikehara, Kimimitsu Oda (1998)
Intracellular retention and degradation of tissue-nonspecific alkaline phosphatase with a Gly317-->Asp substitution associated with lethal hypophosphatasia.Biochemical and biophysical research communications, 246 3
L. Zurutuza, F. Muller, J. Gibrat, A. Taillandier, B. Simon‐Bouy, L. Serre, E. Mornet (1999)
Correlations of genotype and phenotype in hypophosphatasia.Human molecular genetics, 8 6
Hideo Orimo, Zuisei Hayashi, Atsushi Watanabe, Tsunenori Hirayama, Tsuneo Hirayama (1994)
Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia.Human molecular genetics, 3 9
S. Sørensen, H. Flodgaard, E. Sørensen (1978)
Serum Alkaline Phosphatase, Serum Pyrophosphatase, Phosphorylethanolamine and Inorganic Pyrophosphate in Plasma and Urine, 10
Cheryl Greenberg, Cheryl Taylor, James Haworth, Lorne Seargeant, Sylvia Philipps, Barbara Triggs-Raine, Bernard Chodirker (1993)
A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites.Genomics, 17 1
We report on two families in which one or two children had a severe disorder of skeletal development detected by prenatal ultrasonography. The children died postnatally and showed typical radiological and biochemical findings of perinatal hypophosphatasia. Biochemical analysis revealed a low activity of alkaline phosphatase (AP) and a high value of pyridoxal-5-phosphate (PLP), one of its natural substrates. The screening for mutations of the tissue nonspecific alkaline phosphatase (TNSALP) gene showed homozygosity for a point mutation (G 317→D) in the two affected children of the first family. The affected child of the second family was homozygous for a nonsense mutation (R 411→X). Family screening revealed that the determination of AP and PLP is helpful for detection of heterozygotes. However, heterozygote children had values of AP in the lower normal range during phases of rapid growth. The determination of PLP proved to be more sensitive in these cases. It should be kept in mind that during the last trimester of gestation there is an increase in maternal AP activity and a normalization of PLP due to placental AP, which is not affected. Therefore, in the course of a prenatal diagnosis in an index case, paternal blood should be analyzed in parallel. For detailed genetic counseling and early prenatal diagnosis in following pregnancies, the possibility of mutation analysis should be used.
Clinical Genetics – Wiley
Published: Oct 1, 1999
Keywords: alkaline phosphatase; diagnosis; heterozygote carrier; mutation; perinatal hypophosphatasia
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