Three novel mutations in the PHEX gene in Chinese subjects with hypophosphatemic rickets extends genotypic variability

Calcified Tissue International

Volumn 88, Issue 5, 2011, Pages 370-377

  Jap, Tjin Shing ^a,b   Chiu, Chih Yang ^a,b   Niu, Dau Ming ^a,b   Levine, Michael A ^c,d  

^a TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

FGF23; Mutation analysis; PHEX; X linked hypophosphatemic rickets

Indexed keywords

FIBROBLAST GROWTH FACTOR 23; GENOMIC DNA; PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; RNA;

ADULT; AMPLICON; ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE AMPLIFICATION; GENE EXPRESSION; GENE IDENTIFICATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN CELL; HYPOPHOSPHATEMIC RICKETS; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHILD; FEMALE; GENETIC VARIATION; GENOTYPE; HUMANS; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; MALE; MUTATION, MISSENSE; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; TAIWAN; YOUNG ADULT;

EID: 79955639883     PISSN: 0171967X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00223-011-9465-5     Document Type: Article

References (50)

1. Fukumoto S, Yamashita T (2007) FGF23 is a hormone-regulating phosphate metabolism - unique biological characteristics of FGF23. Bone 40:1190-1195 (Pubitemid 46550981)
2. Jonsson KB, Zahradnik R, Larsson T, White KE, Sugimoto T, Imanishi Y, Yamamoto T, Hampson G, Koshiyama H, Ljunggren O, Oba K, Yang IM, Miyauchi A, Econs MJ, Lavigne J, Juppner H (2003) Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. N Engl J Med 348:1656-1663 (Pubitemid 36459471)
3. Consortium HYP (1995) A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat Genet 11:130-136
4. (2000) Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet 26:345-348
5. Feng JQ, Ward LM, Liu S, Lu Y, Xie Y, Yuan B, Yu X, Rauch F, Davis SI, Zhang S, Rios H, Drezner MK, Quarles LD, Bonewald LF, White KE (2006) Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. Nat Genet 38:1310-1315 (Pubitemid 44646294)
6. Lorenz-Depiereux B, Bastepe M, Benet-Pages A, Amyere M, Wagenstaller J, Muller-Barth U, Badenhoop K, Kaiser SM, Rittmaster RS, Shlossberg AH, Olivares JL, Loris C, Ramos FJ, Glorieux F, Vikkula M, Juppner H, Strom TM (2006) DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet 38:1248-1250 (Pubitemid 44646286)
7. Levy-Litan V, Hershkovitz E, Avizov L, Leventhal N, Bercovich D, Chalifa-Caspi V, Manor E, Buriakovsky S, Hadad Y, Goding J, Parvari R (2010) Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am J Hum Genet 86:273-278
8. Lorenz-Depiereux B, Schnabel D, Tiosano D, Hausler G, Strom TM (2010) Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet 86:267-272
9. Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H (2006) SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. Am J Hum Genet 78: 179-192 (Pubitemid 43157559)
10. Ichikawa S, Sorenson AH, Imel EA, Friedman NE, Gertner JM, Econs MJ (2006) Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria. J Clin Endocrinol Metab 91:4022-4027 (Pubitemid 44536880)
11. Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM (2006) Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am J Hum Genet 78:193-201 (Pubitemid 43157560)
12. Strom TM, Juppner H (2008) PHEX, FGF23, DMP1 and beyond. Curr Opin Nephrol Hypertens 17:357-362
13. Tenenhouse HS, Econs MJ (2001) Mendelian hypophosphatemias. In: Scriver CR, Beaudet AL, Sly WS, Vale D (eds) The metabolic and molecular basis of inherited disease. McGraw Hill, New York, pp 5039-5068
14. Makras P, Hamdy NA, Kant SG, Papapoulos SE (2008) Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene. J Clin Endocrinol Metab 93:1386-1389 (Pubitemid 351519737)
15. Glorieux F, Karsenty G, Thakker RV (1997) Metabolic bone disease in children. In: Avioli LV, Krane SM (eds) Metabolic bone diseases and clinically related disorders. Academic Press, New York, pp 759-783
16. Sabbagh Y, Jones AO, Tenenhouse HS (2000) PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia. Hum Mutat 16:1-6 (Pubitemid 30447960)
17. Saito T, Nishii Y, Yasuda T, Ito N, Suzuki H, Igarashi T, Fukumoto S, Fujita T (2009) Familial hypophosphatemic rickets caused by a large deletion in PHEX gene. Eur J Endocrinol 161:647-651
18. Cho HY, Lee BH, Kang JH, Ha IS, Cheong HI, Choi Y (2005) A clinical and molecular genetic study of hypophosphatemic rickets in children. Pediatr Res 58:329-333 (Pubitemid 41099882)
19. Xia W, Meng X, Jiang Y, Li M, Xing X, Pang L, Wang O, Pei Y, Yu LY, Sun Y, Hu Y, Zhou X (2007) Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets. Calcif Tissue Int 81:415-420
20. Song HR, Park JW, Cho DY, Yang JH, Yoon HR, Jung SC (2007) PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets. J Korean Med Sci 22:981-986
21. Lo FS, Kuo MT, Wang CJ, Chang CH, Lee ZL, Van YH (2006) Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets. Nephron Physiol 103:157-163
22. Chou YY, Chao SC, Tsai SC, Lin SJ (2005) Novel PHEX gene mutations in two Taiwanese patients with hypophosphatemic rickets. J Formos Med Assoc 104:198-202
23. Goji K, Ozaki K, Sadewa AH, Nishio H, Matsuo M (2006) Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait. J Clin Endocrinol Metab 91:365-370 (Pubitemid 43236894)
24. Sato K, Tajima T, Nakae J, Adachi M, Asakura Y, Tachibana K, Suwa S, Katsumata N, Tanaka T, Hayashi Y, Abe S, Murashita M, Okuhara K, Shinohara N, Fujieda K (2000) Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. Pediatr Res 48:536-540
25. Su P-H, Chen Y-J, Chen S-J, Yu J-S, Yieh D-M (2010) Novel PHEX gene mutation in one Taiwanese woman with hypophosphatemic rickets. Korean J Genet 29:37-42 (Pubitemid 46615295)
26. Alon U (1993) Clinical assessment of plasma phosphate and renal tubular threshold for phosphate. In: Alon U, Chan JCM (eds) Phosphate in pediatric health and disease. CRC Press, Ann Arbor, pp 103-114
27. Brodehl J, Krause A, Hoyer PF (1988) Assessment of maximal tubular phosphate reabsorption: comparison of direct measurement with the nomogram of Bijvoet. Pediatr Nephrol 2:183-189
28. den Dunnen JT, Antonarakis SE (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12
29. Reese MG, Eeckman FH, Kulp D, Haussler D (1997) Improved splice site detection in Genie. J Comput Biol 4:311-323 (Pubitemid 27355870)
30. Dixon PH, Christie PT, Wooding C, Trump D, Grieff M, Holm I, Gertner JM, Schmidtke J, Shah B, Shaw N, Smith C, Tau C, Schlessinger D, Whyte MP, Thakker RV (1998) Mutational analysis of PHEX gene in X-linked hypophosphatemia. J Clin Endocrinol Metab 83:3615-3623 (Pubitemid 28500899)
31. Holm IA, Nelson AE, Robinson BG, Mason RS, Marsh DJ, Cowell CT, Carpenter TO (2001) Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 86:3889-3899 (Pubitemid 32755994)
32. Rowe PS, Oudet CL, Francis F, Sinding C, Pannetier S, Econs MJ, Strom TM, Meitinger T, Garabedian M, David A, Macher MA, Questiaux E, Popowska E, Pronicka E, Read AP, Mokrzycki A, Glorieux FH, Drezner MK, Hanauer A, Lehrach H, Goulding JN, O'Riordan JL (1997) Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). Hum Mol Genet 6:539-549 (Pubitemid 27142102)
33. Gaucher C, Walrant-Debray O, Nguyen TM, Esterle L, Garabedian M, Jehan F (2009) PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. Hum Genet 125:401-411
34. Francis F, Strom TM, Hennig S, Boddrich A, Lorenz B, Brandau O, Mohnike KL, Cagnoli M, Steffens C, Klages S, Borzym K, Pohl T, Oudet C, Econs MJ, Rowe PS, Reinhardt R, Meitinger T, Lehrach H (1997) Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets. Genome Res 7:573-585 (Pubitemid 27313606)
35. Tyynismaa H, Kaitila I, Nanto-Salonen K, Ala-Houhala M, Alitalo T (2000) Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. Hum Mutat 15:383-384
36. Filisetti D, Ostermann G, von Bredow M, Strom T, Filler G, Ehrich J, Pannetier S, Garnier JM, Rowe P, Francis F, Julienne A, Hanauer A, Econs MJ, Oudet C (1999) Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues. Eur J Hum Genet 7: 615-619
37. Ichikawa S, Traxler EA, Estwick SA, Curry LR, Johnson ML, Sorenson AH, Imel EA, Econs MJ (2008) Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets. Bone 43:663-666
38. Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41-54
39. Cooper DN, Krawczak M, Antonarakis SE (1995) The nature and mechanisms of human gene mutation. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 259-291
40. Kramer A (1996) The structure and function of proteins involved in mammalian pre-mRNA splicing. Annu Rev Biochem 65: 367-409
41. Wittop Koning TH, Schumperli D (1994) RNAs and ribonucleoproteins in recognition and catalysis. Eur J Biochem 219: 25-42
42. Yamazaki Y, Okazaki R, Shibata M, Hasegawa Y, Satoh K, Tajima T, Takeuchi Y, Fujita T, Nakahara K, Yamashita T, Fukumoto S (2002) Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia. J Clin Endocrinol Metab 87:4957-4960 (Pubitemid 35316332)
43. Weber TJ, Liu S, Indridason OS, Quarles LD (2003) Serum FGF23 levels in normal and disordered phosphorus homeostasis. J Bone Miner Res 18:1227-1234 (Pubitemid 37294915)
44. Ito N, Fukumoto S, Takeuchi Y, Yasuda T, Hasegawa Y, Takemoto F, Tajima T, Dobashi K, Yamazaki Y, Yamashita T, Fujita T (2005) Comparison of two assays for fibroblast growth factor (FGF)-23. J Bone Miner Metab 23:435-440 (Pubitemid 41571109)
45. Imel EA, DiMeglio LA, Hui SL, Carpenter TO, Econs MJ (2010) Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating fibroblast growth factor 23 concentrations. J Clin Endocrinol Metab 95:1846-1850
46. Ferrari SL, Bonjour JP, Rizzoli R (2005) Fibroblast growth factor-23 relationship to dietary phosphate and renal phosphate handling in healthy young men. J Clin Endocrinol Metab 90:1519-1524 (Pubitemid 40464013)
47. Antoniucci DM, Yamashita T, Portale AA (2006) Dietary phosphorus regulates serum fibroblast growth factor-23 concentrations in healthy men. J Clin Endocrinol Metab 91:3144-3149 (Pubitemid 44271770)
48. Tencza AL, Ichikawa S, Dang A, Kenagy D, McCarthy E, Econs MJ, Levine MA (2009) Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hypercalciuria and nephrolithiasis. J Clin Endocrinol Metab 94:4433-4438
49. Clausmeyer S, Hesse V, Clemens PC, Engelbach M, Kreuzer M, Becker-Rose P, Spital H, Schulze E, Raue F (2009) Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets. Calcif Tissue Int 85:211-220
50. Ellison J, Tebben P (2009) Novel human pathological mutations. Gene symbol: PHEX. Disease: rickets, hypophosphataemic. Hum Genet 125:339