Novel PHEX Gene Mutation Associated with X Linked Hypophosphatemic Rickets

被引：11

作者：

Chandran, M. ^{[1
]}

Chng, C. L. ^{[2
]}

Zhao, Y. ^{[3
]}

Bee, Y. M. ^{[2
]}

Phua, L. Y. ^{[2
]}

Clarke, B. L. ^{[4
]}

机构：

[1] Singapore Gen Hosp, Osteoporosis & Bone Metab Unit, Dept Endocrinol, Singapore 169608, Singapore

[2] Singapore Gen Hosp, Dept Endocrinol, Singapore 169608, Singapore

[3] Singapore Gen Hosp, Dept Clin Res, Singapore 169608, Singapore

[4] Mayo Clin, Coll Med, Div Endocrinol & Metab, Metab Bone Dis Core Grp, Rochester, MN USA

来源：

NEPHRON PHYSIOLOGY | 2010年 / 116卷 / 03期

关键词：

PEX GENE; CALCITRIOL; RESISTANT; FAMILIES;

D O I：

10.1159/000319318

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

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 (C) 2010 S. Karger AG, Basel

引用

页码：P17 / P21

页数：5

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