Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets

Clinical Endocrinology

Volumn 74, Issue 3, 2011, Pages 312-318

  Ruppe, Mary D ^a   Brosnan, Patrick G ^a,b   Au, Kit Sing ^b   Tran, Phong X ^b   Dominguez, Barbara W ^a,b   Northrup, Hope ^a,b  

^a UNIVERSITY OF TEXAS   (United States)

^b UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DENTIN MATRIX PROTEIN 1; FIBROBLAST GROWTH FACTOR 23; PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE;

ADULT; ARTICLE; CLINICAL ARTICLE; DISEASE ASSOCIATION; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; HYPOPHOSPHATEMIC RICKETS; MALE; MISSENSE MUTATION; MUTATION RATE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRIORITY JOURNAL;

COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FAMILY HEALTH; FEMALE; FIBROBLAST GROWTH FACTORS; GENETIC TESTING; HUMANS; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; MALE; MUTATION; MUTATION, MISSENSE; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; PHOSPHOPROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 79851493370     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2010.03919.x     Document Type: Article

References (40)

1. Albright, F., Butler, A., &, Bloomberg, E., (1939) Rickets resistant to vitamin D therapy. American Journal of Diseases of Children, 54, 529-547.
2. Davies, M., &, Stanbury, S.W., (1981) The rheumatic manifestations of metabolic bone disease. Clinics in Rheumatic Diseases, 7, 595-646. (Pubitemid 12156526)
3. Beck-Nielsen, S.S., Brock-Jacobsen, B., Gram, J., et al. (2009) Incidence and prevalence of nutritional and hereditary rickets in southern Denmark. European Journal of Endocrinology/European Federation of Endocrine Societies, 160, 491-497.
4. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. Nature Genetics, 11, 130-136 (1995).
5. Beck, L., Soumounou, Y., Martel, J., et al. (1997) Pex/PEX tissue distribution and evidence for a deletion in the 3â region of the Pex gene in X-linked hypophosphatemic mice. Journal of Clinical Investigation, 99, 1200-1209. (Pubitemid 27142755)
6. Ruchon, A.F., Tenenhouse, H.S., Marcinkiewicz, M., et al. (2000) Developmental expression and tissue distribution of Phex protein: effect of the Hyp mutation and relationship to bone markers. Journal of Bone and Mineral Research, 15, 1440-1450. (Pubitemid 30484513)
7. Guo, R., &, Quarles, L.D., (1997) Cloning and sequencing of human PEX from a bone cDNA library: evidence for its developmental stage-specific regulation in osteoblasts. Journal of Bone and Mineral Research, 12, 1009-1017. (Pubitemid 27264213)
8. Econs, M.J., &, McEnery, P.T., (1997) Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder. Journal of Clinical Endocrinology and Metabolism, 82, 674-681. (Pubitemid 27068650)
9. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. The ADHR Consortium. Nature Genetics, 26, 345-348 (2000).
10. Econs, M.J., McEnery, P.T., Lennon, F., et al. (1997) Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13. Journal of Clinical Investigation, 100, 2653-2657. (Pubitemid 28007531)
11. Riminucci, M., Collins, M.T., Fedarko, N.S., et al. (2003) FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. Journal of Clinical Investigation, 112, 683-692. (Pubitemid 38057709)
12. Shimada, T., Mizutani, S., Muto, T., et al. (2001) Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia. Proceedings of the National Academy of Sciences of the United States of America, 98, 6500-6505. (Pubitemid 32488266)
13. White, K.E., Carn, G., Lorenz-Depiereux, B., et al. (2001) Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23. Kidney International, 60, 2079-2086. (Pubitemid 33070451)
14. Bai, X.Y., Miao, D., Goltzman, D., et al. (2003) The autosomal dominant hypophosphatemic rickets R176Q mutation in fibroblast growth factor 23 resists proteolytic cleavage and enhances in vivo biological potency. The Journal of Biological Chemistry, 278, 9843-9849. (Pubitemid 36800487)
15. Lorenz-Depiereux, B., Bastepe, M., Benet-Pages, A., et al. (2006) DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nature Genetics, 38, 1248-1250. (Pubitemid 44646286)
16. Feng, J.Q., Ward, L.M., Liu, S., et al. (2006) Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. Nature Genetics, 38, 1310-1315. (Pubitemid 44646294)
17. Fisher, L.W., &, Fedarko, N.S., (2003) Six genes expressed in bones and teeth encode the current members of the SIBLING family of proteins. Connective Tissue Research, 44 (Suppl 1), 33-40. (Pubitemid 36395419)
18. Farrow, E.G., Davis, S.I., Ward, L.M., et al. (2009) Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets. Bone, 44, 287-294.
19. Koshida, R., Yamaguchi, H., Yamasaki, K., et al. (2010) A novel nonsense mutation in the DMP1 gene in a Japanese family with autosomal recessive hypophosphatemic rickets. Journal of Bone and Mineral Metabolism, 28, 585-590.
20. Sabbagh, Y., Jones, A.O., &, Tenenhouse, H.S., (2000) PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia. Human Mutation, 16, 1-6. (Pubitemid 30447960)
21. Francis, F., Strom, T.M., Hennig, S., et al. (1997) Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets. Genome Research, 7, 573-585. (Pubitemid 27313606)
22. Rowe, P.S., Oudet, C.L., Francis, F., et al. (1997) Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). Human Molecular Genetics, 6, 539-549. (Pubitemid 27142102)
23. Nelson, A.E., Bligh, R.C., Mirams, M., et al. (2003) Clinical case seminar: fibroblast growth factor 23: a new clinical marker for oncogenic osteomalacia. Journal of Clinical Endocrinology and Metabolism, 88, 4088-4094. (Pubitemid 37153703)
24. Larsson, T., Yu, X., Davis, S.I., et al. (2005) A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis. Journal of Clinical Endocrinology and Metabolism, 90, 2424-2427. (Pubitemid 40586293)
25. Sunyaev, S.R., Eisenhaber, F., Rodchenkov, I.V., et al. (1999) PSIC: profile extraction from sequence alignments with position-specific counts of independent observations. Protein Engineering, 12, 387-394. (Pubitemid 29265395)
26. Ng, P.C., &, Henikoff, S., (2003) SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Research, 31, 3812-3814. (Pubitemid 37442253)
27. Walton, R.J., &, Bijvoet, O.L., (1975) Nomogram for derivation of renal threshold phosphate concentration. Lancet, 2, 309-310.
28. Stark, H., Eisenstein, B., Tieder, M., et al. (1986) Direct measurement of TP/GFR: a simple and reliable parameter of renal phosphate handling. Nephron, 44, 125-128. (Pubitemid 16043527)
29. Tenenhouse, H.S., (1999) X-linked hypophosphataemia: a homologous disorder in humans and mice. Nephrology, Dialysis, Transplantation, 14, 333-341. (Pubitemid 29062787)
30. Ichikawa, S., Traxler, E.A., Estwick, S.A., et al. (2008) Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets. Bone, 43, 663-666.
31. Carpenter, T.O., (1997) New perspectives on the biology and treatment of X-linked hypophosphatemic rickets. Pediatric Clinics of North America, 44, 443-466. (Pubitemid 27188182)
32. Owen, C.J., Habeb, A., Pearce, S.H., et al. (2009) Discordance for X-linked hypophosphataemic rickets in identical twin girls. Hormone Research, 71, 237-244.
33. Shimada, T., Hasegawa, H., Yamazaki, Y., et al. (2004) FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis. Journal of Bone and Mineral Research, 19, 429-435. (Pubitemid 38787398)
34. Inoue, Y., Segawa, H., Kaneko, I., et al. (2005) Role of the vitamin D receptor in FGF23 action on phosphate metabolism. Biochemical Journal, 390, 325-331. (Pubitemid 41192259)
35. Turan, S., Aydin, C., Bereket, A., et al. (2010) Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia. Bone, 46, 402-409.
36. Holm, I.A., Huang, X., &, Kunkel, L.M., (1997) Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. American Journal of Human Genetics, 60, 790-797. (Pubitemid 27146486)
37. Gaucher, C., Walrant-Debray, O., Nguyen, T.M., et al. (2009) PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. Human Genetics, 125, 401-411.
38. Clausmeyer, S., Hesse, V., Clemens, P.C., et al. (2009) Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets. Calcified Tissue International, 85, 211-220.
39. Lorenz-Depiereux, B., Schnabel, D., Tiosano, D., et al. (2010) Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. American Journal of Human Genetics, 86, 267-272.
40. Levy-Litan, V., Hershkovitz, E., Avizov, L., et al. (2010) Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. American Journal of Human Genetics, 86, 273-278.