Novel SLC34A3 mutation causing hereditary hypophosphataemic rickets with hypercalciuria in a Gambian family

Bone

Volumn 53, Issue 1, 2013, Pages 216-220

  Braithwaite, Vickie ^a   Pettifor, John M ^b   Prentice, Ann ^a,c  

^a MRC HUMAN NUTRITION RESEARCH   (United Kingdom)

^b UNIVERSITY OF THE WITWATERSRAND   (South Africa)

^c MEDICAL RESEARCH COUNCIL LABORATORIES   (Gambia)

Author keywords

Africa; Gene mutation; HHRH; Rickets; SLC34A3

Indexed keywords

25 HYDROXYVITAMIN D; CALCITRIOL; CALCIUM; DNA; SODIUM PHOSPHATE COTRANSPORTER 2C; VITAMIN D;

ABNORMAL URINE COMPOSITION; ARTICLE; BONE MALFORMATION; CALCIUM BLOOD LEVEL; CASE REPORT; CHILD; COMPUTER ANALYSIS; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GAMBIA; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA; HETEROZYGOTE; HUMAN; HYPERPHOSPHATURIA; HYPOPHOSPHATEMIA; KNEE RADIOGRAPHY; MALE; MOLECULAR PATHOLOGY; MOTHER; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; RURAL AREA; SCHOOL CHILD; SEQUENCE ANALYSIS; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; SLC34A3 GENE; VITAMIN BLOOD LEVEL; WRIST RADIOGRAPHY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; GAMBIA; HUMANS; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; MALE; MUTATION; SODIUM-PHOSPHATE COTRANSPORTER PROTEINS, TYPE IIC;

EID: 84871941912     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2012.12.003     Document Type: Article

References (10)

1. Prentice A., Ceesay M., Nigdikar S., Allen S.J., Pettifor J.M. FGF23 is elevated in Gambian children with rickets. Bone 2008, 42:788-797.
2. Braithwaite V., Jarjou L.M., Goldberg G.R., Jones H., Pettifor J.M., Prentice A. Follow-up study of Gambian children with rickets-like bone deformities and elevated plasma FGF23: possible aetiological factors. Bone 2011, 50:218-225.
3. Lorenz-Depiereux B., Benet-Pages A., Eckstein G., Tenenbaum-Rakover Y., Wagenstaller J., Tiosano D., et al. Hereditary hypophosphatemia rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am J Hum Genet 2006, 78:193-201.
4. Bergwitz C., Roslin N.M., Tieder M., Loredo-Osti J., Bastepe M., Abu-Zahra H., et al. 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.
5. Negri A.L. Hereditary hypophosphatemias: new genes in the bone-kidney axis. Nephrology 2007, 12:317-320.
6. Thacher T., Fischer P.R., Pettifor J., Lawson J., Manaster B., Reading J.C. Radiographic scoring method for the assessment of the severity of nutritional rickets. J Trop Pediatr 2000, 46:132-139.
7. Payne R. Renal tubular reabsorption of phosphate (TmP/GFR): indications and interpretation. Ann Clin Biochem 1998, 35:201-206.
8. Schwarz J.M., Rodelsperger C., Schuelke M., Seelow D., Wagenstaller J., Tiosano D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 2010, 7:575-576.
9. Adzhubei I.A., Schmidt S., Peshkin L., Ramensky V.E., Gerasimova A., Bork P., Kondrashov A.S., Sunyaev S.R. A method and server for predicting damaging missense mutations. Nat Methods 2012, 7:248-249.
10. Farrow E.G., Yu X., Summers L.J., Davis S.I., Fleet J.C., Allen M.R., et al. Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice. Proc Natl Acad Sci U S A 2011, 108:E1146-E1155.