Hypophosphatemic rickets caused by a novel PHEX gene mutation in an Indian girl

J Pediatr Endocrinol Metab. 2014 Jul;27(7-8):787-9. doi: 10.1515/jpem-2013-0270.

Abstract

We report a girl who presented with clinical and biochemical features of hypophosphatemic rickets. Mutational analysis detected a heterozygous nonsynonymous sequence variation in exon 11 of the PHEX gene (NM_000444.4:c.1216T>C, NP_000435.3:p.Cys406Arg). This previously undescribed PHEX mutation is probably the cause of renal phosphate wasting in our patient that resulted in rickets.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Sequence
  • Amino Acid Substitution
  • Calcitriol / therapeutic use
  • Child, Preschool
  • Familial Hypophosphatemic Rickets / drug therapy
  • Familial Hypophosphatemic Rickets / genetics*
  • Female
  • Genetic Diseases, X-Linked / drug therapy
  • Genetic Diseases, X-Linked / genetics*
  • Humans
  • India
  • PHEX Phosphate Regulating Neutral Endopeptidase / genetics*
  • Phosphates / blood
  • Phosphorus / therapeutic use
  • White People

Substances

  • Phosphates
  • Phosphorus
  • PHEX Phosphate Regulating Neutral Endopeptidase
  • Calcitriol