Discordance for X-Linked hypophosphataemic rickets in identical twin girls

Hormone Research

Volumn 71, Issue 4, 2009, Pages 237-244

  Owen, Catherine J ^a   Habeb, Abdul ^a   Pearce, Simon H S ^a   Wright, Michael ^a   Ichikawa, Shoji ^b   Sorenson, Andrea H ^b   Econs, Michael J ^b   Cheetham, Tim D ^a,c  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c ROYAL VICTORIA INFIRMARY   (United Kingdom)

Author keywords

Monozygotic twins; X chromosome inactivation; X linked hypophosphataemic rickets

Indexed keywords

MICROSATELLITE DNA;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME INACTIVATION; DNA DETERMINATION; EXON; FAMILY HISTORY; FEMALE; GENE SEQUENCE; HUMAN; INHERITANCE; KIDNEY TUBULE ABSORPTION; MONOZYGOTIC TWINS; PENETRANCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEROLOGY; UNIPARENTAL DISOMY; URINALYSIS; X CHROMOSOME; X LINKED HYPOPHOSPHATEMIC RICKETS;

ADULT; ALKALINE PHOSPHATASE; CHILD; CHILD, PRESCHOOL; DISEASES IN TWINS; FEMALE; HUMANS; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; INFANT; MALE; PEDIGREE; PENETRANCE; PHOSPHATES; TWINS, MONOZYGOTIC;

EID: 61349098843     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000201113     Document Type: Article

References (35)

1. Tenenhouse HS, Econs MJ: Mendelian hypophosphatemias; in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Basis of Inherited Disease. New York, McGraw-Hill, 2001, pp 5039-5068.
2. Carpenter TO: New perspectives on the biology and treatment of X-linked hypophosphatemic rickets. Pediatr Clin North Am 1997;44:443-466.
3. The HYP Consortium: Functional cloning of PEX: a gene with homologies to endopeptidase is mutated in patients with X-linked hypophosphataemic rickets. Nat Genet 1995;11:130-136.
4. Holm IA, Huang X, Kunkel LM: Mutational analysis of the PEX gene in patients with Xlinked hypophosphatemic rickets. Am J Hum Genet 1997;60:790-797.
5. 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: 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 2006;78:179-192.
6. 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: Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am J Hum Genet 2006;78:193-201.
7. Econs MJ, McEnery PT: Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterisation of a novel renal phosphate-wasting disorder. J Clin Endocrinol Metab 1997;82:674-681.
8. The ADHR Consortium: Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet 2000;26:345-348.
9. Quarles LD, Drezner MK: Editorial: pathophysiology of X-linked hypophosphatemia, tumor-induced osteomalacia, and autosomal dominant hypophosphatemia: a per-PHEXing problem. J Clin Endocrinol Metab 2001;86:494-495.
10. Quarles LD: FGF23, PHEX and MEPE regulation of phosphate homeostasis and skeletal mineralization. Am J Physiol Endocrinol Metab 2003;285:E1-E9.
11. Liu S, Guo R, Simpson LG, Xiao ZS, Burnham CE, Quarles LD: Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX. J Biol Chem 2003;278:37419-37426.
12. Berndt T, Craig TA, Bowe AE, Vassiliadis J, Reczek D, Finnegan R, Jan De Beur SM, Schiavi SC, Kumar R: Secreted frizzled-related protein 4 is a potent tumor-derived phosphaturic agent. J Clin Invest 2003;112:785-794.
13. Rowe PS, Kumagai Y, Gutierrez G, Garrett IR, Blacher R, Rosen D, Cundy J, Navvab S, Chen D, Drezner MK, Quarles LD, Mundy GR: MEPE has the properties of an osteoblastic phosphatonin and minhibin. Bone 2004;34:303-319.
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 Xlinked hypophosphatemic rickets. J Clin Endocrinol Metab 2001;86:3889-3899.
15. Brodehl J, Krause A, Hoyer PF: Assessment of maximal tubular phosphate reabsorption: comparison of direct measurement with the nomogram of Bijvoet. Pediatr Nephrol 1988;2:183-189.
16. Walton R, Bijvoet O: Normogram for derivation of renal threshold phosphate concentration. Lancet 1975;2:309-310.
17. Shaw N, Wheeldon J, Brocklebank J: Indices of intact serum parathyroid hormone and renal excretion of calcium, phosphate and magnesium. Arch Dis Child 1990;65:1208-1211.
18. Wengler GS, Parolini O, Fiorini M, Mella P, Smith H, Ugazio AG, Notarangelo LD: A PCR-based non-radioactive X-chromosome inactivation assay for genetic counselling in X-linked primary immunodeficiencies. Life Sci 1997;61:1405-1411.
19. 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: Mutational analysis of PHEX gene in X-linked hypophosphatemia. J Clin Endocrinol Metab 1998;83:3615-3623.
20. Christie PT, Harding B, Nesbit MA, Whyte MP, Thakker RV: X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene. J Clin Endocrinol Metab 2001;86:3840-3844.
21. Hardy DC, Murphy WA, Siegel BA, Reid IR, Whyte MP: X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features. Radiology 1989;171:403-414.
22. Shields ED, Scriver CR, Reade T, Fujiwara TM, Morgan K, Ciampi A, Schwartz S: Xlinked hypophosphatemia: the mutant gene is expressed in teeth as well as in kidney. Am J Hum Genet 1990;46:434-442.
23. Whyte MP, Schranck FW, Armamento-Villareal R: X-linked hypophosphatemia: a search for gender, race, anticipation, or parent of origin effects on disease expression in children. J Clin Endocrinol Metab 1996;81:4075-4080.
24. Reid IR, Hardy DC, Murphy WA, Teitelbaum SL, Bergfeld MA, Whyte MP: X-linked hypophosphatemia: a clinical, biochemical, and histopathologic assessment of morbidity in adults. Medicine 1989;68:336-352.
25. Orstavik KH, Orstavik RE, Halse J, Knudtzon J: X chromosome inactivation pattern in female carriers of X linked hypophosphataemic rickets. J Med Genet 1996;33:700-703.
26. Burn J, Povey S, Boyd Y, Munro EA, West L, Harper K, Thomas D: Duchenne muscular dystrophy in one of monozygotic twin girls. J Med Genet 1986;23:494-500.
27. Jorgensen AL, Philip J, Raskind WH, Matsushita M, Christensen B, Dreyer V, Motulsky AG: Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency. Am J Hum Genet 1992;51:291-298.
28. Willemsen R, Olmer R, De Diego Otero Y, Oostra BA: Twin sisters with the fragile X mutation, but with a different phenotype. J Med Genet 2000;37:603-604.
29. Valleix S, Vinciguerra C, Lavergne JM, Leuer M, Delpech M, Negrier C: Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. Blood 2002;100:3034-3036.
30. De Gregorio L, Jinnah HA, Harris JC, Nyhan WL, Schretlen DJ, Trombley LM, O'Neill JP: Lesch-Nyhan disease in a female with a clinically normal monozygotic twin. Mol Genet Metab 2005;85:70-77.
31. Gale RE, Wheadon H, Boulos P, Linch DC: Tissue specificity of X-chromosome inactivation patterns. Blood 1994;83:2899-2905.
32. Puck JM: The timing of twinning: more insightsfrom X inactivation. Am J Hum Genet 1998;63:327-328.
33. Monteiro J, Derom C, Vlietinck R, Kohn N, Lesser M, Gregersen PK: Commitment to X inactivation precedes the twinning event in monochorionic MZ twins. Am J Hum Genet 1998;63:339-346.
34. Sirchia SM, Garagiola I, Colucci G, Guerneri S, Lalatta F, Grimoldi MG, Simoni G: Trisomic zygote rescue revealed by DNA polymorphism analysis in confined placental mosaicism. Prenat Diagn 1998;18:201-206.
35. Hirschhorn R, Yang DR, Puck JM, Huie ML, Jiang CK, Kurlandsky LE: Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Nat Genet 1996;13:290-295.