title: Hypophosphatemic rickets caused by a novel PHEX gene mutation in an Indian girl.
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.
authors.forename: Devi
authors.initials: D
authors.lastname: Dayal
authors.forename: Sheetal
authors.initials: S
authors.lastname: Sharda
authors.forename: Savita Verma
authors.initials: SV
authors.lastname: Attri
authors.forename: Rakesh
authors.initials: R
authors.lastname: Kumar
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D002117:Calcitriol / Q000627:therapeutic use; D002675:Child, Preschool; D053098:Familial Hypophosphatemic Rickets / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D007194:India; D053402:PHEX Phosphate Regulating Neutral Endopeptidase / Q000235:genetics*; D010710:Phosphates / Q000097:blood; D010758:Phosphorus / Q000627:therapeutic use; D044465:White People
chemical_list: D010710:Phosphates; D010758:Phosphorus; D053402:PHEX Phosphate Regulating Neutral Endopeptidase; D002117:Calcitriol