Novel PHEX gene mutation associated with X linked hypophosphatemic rickets.
| Autor: | Chandran M; Osteoporosis and Bone Metabolism Unit, Department of Endocrinology, Singapore General Hospital, Singapore, Singapore. manju.chandran @ sgh.com.sg, Chng CL, Zhao Y, Bee YM, Phua LY, Clarke BL |
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| Jazyk: | angličtina |
| Zdroj: | Nephron. Physiology [Nephron Physiol] 2010; Vol. 116 (3), pp. p17-21. Date of Electronic Publication: 2010 Jul 28. |
| DOI: | 10.1159/000319318 |
| Abstrakt: | 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. (Copyright © 2010 S. Karger AG, Basel.) |
| Databáze: | MEDLINE |
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