Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets

Nephron - Physiology

Volumn 103, Issue 4, 2006, Pages

  Lo, Fu Sung ^a,b   Kuo, Min Tzu ^a   Wang, Chao Jan ^a   Chang, Chia Hsieh ^a   Lee, Zhon Liau ^a   Van, Yang Hau ^a  

^a Chang Gung Children Hospital   (Taiwan)

^b CHANG GUNG CHILDREN S HOSPITAL   (Taiwan)

Author keywords

Bone mineralization; Hypophosphatemia; Phosphate regulating gene with homologies to endopeptidases on X chromosome; X linked hypophosphate rickets

Indexed keywords

DNA;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DNA SEQUENCE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; HUMAN; INTRON; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHOSPHATE REGULATING GENE WITH HOMOLOGIES TO ENDOPEPTIDASES ON X CHROMOSOME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; STOP CODON; TAIWAN; VITAMIN D RESISTANT RICKETS;

ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; HYPOPHOSPHATEMIA, FAMILIAL; INFANT; MALE; MEMBRANE GLYCOPROTEINS; METALLOENDOPEPTIDASES; MUTATION; PEDIGREE; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; TAIWAN;

EID: 33746368803     PISSN: 16602137     EISSN: None     Source Type: Journal    
DOI: 10.1159/000092916     Document Type: Article

References (20)

1. McKusick VA: In Mendelian Inheritance in Man: Catalogs of Human Genes and Genetic Disorders, ed 11. Baltimore, John Hopkins University Press, 1994.
2. 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, Metiniger T, Lehrach H: Genomic organization of the human PEX gene mutated in X-linked hypophosphatemic rickets. Genome Res 1997;7:573-585.
3. The HYP Consortium: A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat Genet 1995;11:130-136.
4. Walton RJ, Bijoet OLM: Nomogram for derivation of renal threshold phosphate concentration. Lancet 1975;ii:309-310.
5. Sabbagh Y, JonesAO, Tenenhouse HS: PHEX-db, a locus-specific database for mutations causing X-linked hypophosphatemia. Hum Mutat 2000;16:1-6.
6. 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: Three Novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. Pediatr Res 2000;48:536-540.
7. Rowe PSN, Oudet CL, Francis F, Sinding C, Pannetier S, Econs MJ, Strom TM, Metinger 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 JLH: Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). Hum Mol Genet 1997;6:539-549.
8. Carpenter TO: New perspectives on the biology and treatment of X linked hypophosphatemic rickets. Pediatr Clin N Am 1997;44:443-460.
9. Thompson GH: Torsional and angular deformities; in Behrman RE, Kliegman RM, Jenson HB (eds): Nelson Textbook of Pediatrics, ed 17. Philadelphia, Saunders, 2004, pp 2261-2269.
10. Jan de Beur SM, Levine MA: Molecular pathogenesis of hypophosphatemic rickets. J Clin Endocrinol Metab 2002;87:2467-2473.
11. Whyte MP, Schranck FW, Armamento-Villareal R: X linked hypophosphatemia: a search for gender, race, anticipation, or parental origin effects on disease expression in children. J Clin Endocrinol Metab 1996;81:4075-4080.
12. Tyynismaa H, Kaitila I, Nanto-Salonen K, Ala-Houhala, Alitalo T: Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. Hum Mutation 2000;Mutation in Brief#309 online.
13. Holm IA, Huang X, Kunkel LM: Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. Am J Hum Genet 1997;60:790-797.
14. 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: Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues. Eur J Hum Genet 1999;7:615-619.
15. 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. J Clin Endocrinol Metab 2001;86:3889-3899.
16. Dixon PH, Christie PT, Wooding C, Trump D, Grieff M, Holm I, Gertner JM, Schmidtke J, Shall B, Shaw N, Smith C, Tau C, Schlessinger D, Whyte MP, Thakker RV: Mutational analysis of PHEX gene in X-linked hypophosphatemia. J Clin Endocrinol Metab 1998;83:3615-3623.
17. Econs MJ, Friedman NE, Rowe PSN, Speer MC, Francis SF, Strom TM, Outdet C, Smith JA, Ninomiya JT, Lee BE, Bergen H: A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 1998;83:3459-3462.
18. Chou YY, Chao SC, Tsai SC, Lin SJ: Novel PHEX gene mutations in two Taiwanese patients with hypophosphatemic rickets. J Formos Med Assoc 2005;104:198-202.
19. Popowska E, Pronicka E, Sulek A, Jurkiewicz D, Rowinska E, Sykut-Cegielska J, Rump Z, Arasimowicz E, Kraejewska-Walasek M: X-linked hypophosphatemia in Polish patients. 2. Analysis of clinical features and genotpye-phenotype correlation. J Appl Genet 2001;42:73-88.
20. Sabbagh Y, Tenenhouse HS: PHEXdb: PHEX locus database. http://www.phexdb.mcgill.ca/, pers commun, 134, 135, 136, 158-187.