Novel PHEX gene mutation associated with X linked hypophosphatemic rickets.
BACKGROUND
X-linked hypophosphatemia (XLH) is characterized by renal phosphate wasting with hypophosphatemia, short stature, and rachitic manifestations.


METHODS
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.


CONCLUSIONS
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.
Chandran
M
M
Osteoporosis and Bone Metabolism Unit, Department of Endocrinology, Singapore General Hospital, Singapore, Singapore. manju.chandran @ sgh.com.sg
Chng
C L
CL
Zhao
Y
Y
Bee
Y M
YM
Phua
L Y
LY
Clarke
B L
BL
D000328:Adult; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005091:Exons; D053098:Familial Hypophosphatemic Rickets / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D007194:India / Q000208:ethnology; D053402:PHEX Phosphate Regulating Neutral Endopeptidase / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D012846:Singapore; D014808:Vitamin D Deficiency / Q000150:complications* / Q000188:drug therapy / Q000208:ethnology
D018389:Codon, Nonsense; D053402:PHEX Phosphate Regulating Neutral Endopeptidase; C506231:PHEX protein, human