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Case Reports
. 2014 Jul;27(7-8):787-9.
doi: 10.1515/jpem-2013-0270.

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

Devi Dayal, Sheetal Sharda, Savita Verma Attri, Rakesh Kumar
Case Reports

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

Devi Dayal et al. J Pediatr Endocrinol Metab. 2014 Jul.

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.

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