Familial hypophosphatemic rickets caused by a large deletion in PHEX gene

European Journal of Endocrinology

Volumn 161, Issue 4, 2009, Pages 647-651

  Saito, Tasuku ^a   Nishii, Yutaka ^b   Yasuda, Toshiyuki ^c   Ito, Nobuaki ^a   Suzuki, Hisanori ^a   Igarashi, Takashi ^a   Fukumoto, Seiji ^a   Fujita, Toshiro ^a  

^a UNIVERSITY OF TOKYO HOSPITAL   (Japan)

^b Nagano Municipal Hospital   (Japan)

^c NATIONAL HOSPITAL ORGANIZATION CHIBA MEDICAL CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

1,25 DIHYDROXYERGOCALCIFEROL; COLECALCIFEROL; DENTIN MATRIX PROTEIN 1; FIBROBLAST GROWTH FACTOR 23; GENOMIC DNA; PHOSPHATE; PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; FIBROBLAST GROWTH FACTOR; PHEX PROTEIN, HUMAN; SUMO 1 PROTEIN;

ADULT; AGED; ARTICLE; BONE BOWING; CASE REPORT; CLINICAL FEATURE; DRUG WITHDRAWAL; FAMILIAL HYPOPHOSPHATEMIC RICKETS; FEMALE; GENE DELETION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; HYPERCALCEMIA; LEG DISEASE; MALE; MOSAICISM; MUTATIONAL ANALYSIS; OPTIMAL DRUG DOSE; PATHOGENESIS; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION; DIFFERENTIAL DIAGNOSIS; DOMINANT GENE; EXON; GENETICS; INTRON; NUCLEOTIDE SEQUENCE; OSTEOMALACIA; RECESSIVE GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; X LINKED HYPOPHOSPHATEMIC RICKETS;

ADULT; AGED; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FIBROBLAST GROWTH FACTORS; GENE DELETION; GENES, DOMINANT; GENES, RECESSIVE; HUMANS; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; INTRONS; MALE; OSTEOMALACIA; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; POLYMORPHISM, SINGLE NUCLEOTIDE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SUMO-1 PROTEIN;

EID: 70349758944     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-09-0261     Document Type: Article

References (22)

1. Liu S, Gupta A & Quarles LD. Emerging role of fibroblast growth factor 23 in a bone-kidney axis regulating systemic phosphate homeostasis and extracellular matrix mineralization. Current Opinion in Nephrology and Hypertension 2007 16 329-335. (Pubitemid 46944331)
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. Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. New England Journal of Medicine 2003 348 1656-1663. (Pubitemid 36459471)
3. Yamazaki Y, Okazaki R, Shibata M, Hasegawa Y, Satoh K, Tajima T, Takeuchi Y, Fujita T, Nakahara K, Yamashita T & Fukumoto S. Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia. Journal of Clinical Endocrinology and Metabolism 2002 87 4957-4960.
4. ADHR Consortium. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nature Genetics 2000 26 345-348.
5. 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. DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nature Genetics 2006 38 1248-1250.
6. 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. Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. Nature Genetics 2006 38 1310-1315. (Pubitemid 44646294)
7. Shimada T, Hasegawa H, Yamazaki Y, Muto T, Hino R, Takeuchi Y, Fujita T, Nakahara K, Fukumoto S & Yamashita T. FGF23 is a potent regulator of vitamin D metabolism and phosphate homeostasis. Journal of Bone and Mineral Research 2004 19 429-435. (Pubitemid 38787398)
8. HYP Consortium. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. Nature Genetics 1995 11 130-136.
9. Lorenz B, Francis F, Gempel K, Boddrich A, Josten M, Schmahl W, Schmidt J, Lehrach H, Meitinger T & Strom TM. Spermine deficiency in Gy mice caused by deletion of the spermine synthase gene. Human Molecular Genetics 1998 7 541-547. (Pubitemid 28120647)
10. Sabbagh Y, Jones AO & Tenenhouse HS. PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia. Human Mutation 2000 16 1-6. (Pubitemid 30447960)
11. Song HR, Park JW, Cho DY, Yang JH, Yoon HR & Jung SC. PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets. Journal of Korean Medical Science 2007 22 981-986.
12. Liu S, Tang W, Zhou J, Vierthaler L & Quarles LD. Distinct roles for intrinsic osteocyte abnormalities and systemic factors in regulation of FGF23 and bone mineralization in Hyp mice. American Journal of Physiology. Endocrinology and Metabolism 2007 293 E1636-E1644.
13. Yuan B, Takaiwa M, Clemens TL, Feng JQ, Kumar R, Rowe PS, Xie Y & Drezner MK. Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia. Journal of Clinical Investigation 2008 118 722-734. (Pubitemid 351206560)
14. Holm IA, Nelson AE, Robinson BG, Mason RS, Marsh DJ, Cowell CT & Carpenter TO. Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. Journal of Clinical Endocrinology and Metabolism 2001 86 3889-3899.
15. Goji K, Ozaki K, Sadewa AH, Nishio H & Matsuo M. 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. Journal of Clinical Endocrinology and Metabolism 2006 91 365-370. (Pubitemid 43236894)
16. Gaucher C, Walrant-Debray O, Nquyen TM, Esterle L, Garabédian M & Jehan F. PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. Human Genetics 2009 125 401-411.
17. Brame LA, White KE & Econs MJ. Renal phosphate wasting disorders: clinical features and pathogenesis. Seminars in Nephrology 2004 24 39-47.
18. Rasmussen H & Tenenhouse HS. Mendelian hypophosphatemias. In The Metabolic and Molecular Bases of Inherited Disease, edn 7, pp 3717-3745. Eds CR Seriver, AL Beaudet, WS Sly & D Valie, New York: McGraw-Hill, 1995.
19. 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. Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). Human Molecular Genetics 1997 6 539-549.
20. 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. Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets. Genome Research 1997 7 573-585.
21. Dixon PH, Christie PT, Wooding C, Trump D, Grieff Mm Holm I, Gertner JM, Schmidtke J, Shah B, Shaw N, Smith C, Tau C, Schlessinger D, Whyte MP & Thakker RV. Mutational analysis of PHEX gene in X-linked hypophosphatemia. Journal of Clinical Endocrinology and Metabolism 1998 83 3615-3623.
22. Cho HY, Lee BH, Kang JH, Ha IS, Cheong HI & Choi Y. A clinical and molecular genetic study of hypophosphatemic rickets in children. Pediatric Research 2005 58 329-333.