M Chandran1, C L Chng, Y Zhao, Y M Bee, L Y Phua, B L Clarke. 1. Osteoporosis and Bone Metabolism Unit, Department of Endocrinology, Singapore General Hospital, Singapore, Singapore. manju.chandran @ sgh.com.sg
Abstract
INTRODUCTION: X-linked hypophosphatemia (XLH) is characterized by renal phosphate wasting with hypophosphatemia, short stature, and rachitic manifestations. CLINICAL PICTURE: We describe a novel nonsense mutation in exon 3 of the PHEX gene (Glu(96)X (c.286G>T) causing XLH in a mother and daughter of Indian ancestry. The mother was noted to have concomitant vitamin D insufficiency. CONCLUSION: Our report identifies a novel nonsense mutation in the PHEX gene causing XLH. It also highlights the fact that the presence of concomitant vitamin D insufficiency should not preclude the diagnosis of familial forms of hypophosphatemic rickets, especially if more than one family member is affected.
INTRODUCTION:X-linked hypophosphatemia (XLH) is characterized by renal phosphate wasting with hypophosphatemia, short stature, and rachitic manifestations. CLINICAL PICTURE: We describe a novel nonsense mutation in exon 3 of the PHEX gene (Glu(96)X (c.286G>T) causing XLH in a mother and daughter of Indian ancestry. The mother was noted to have concomitant vitamin D insufficiency. CONCLUSION: Our report identifies a novel nonsense mutation in the PHEX gene causing XLH. It also highlights the fact that the presence of concomitant vitamin D insufficiency should not preclude the diagnosis of familial forms of hypophosphatemic rickets, especially if more than one family member is affected.
Authors: Varsha S Jagtap; Vijaya Sarathi; Anurag R Lila; Tushar Bandgar; Padmavathy Menon; Nalini S Shah Journal: Indian J Endocrinol Metab Date: 2012-03
Authors: Sara L Ma; Virginia Vega-Warner; Christopher Gillies; Matthew G Sampson; Vijay Kher; Sidharth K Sethi; Edgar A Otto Journal: PLoS One Date: 2015-06-24 Impact factor: 3.240