[Gene mutation analysis of X-linked hypophosphatemic rickets].
OBJECTIVE
To investigate the frequency and type of PHEX gene mutations in children with X-linked hypophosphatemic rickets (XLH), the possible presence of mutational hot spots, and the relationship between genotype and clinical phenotype.


METHODS
Clinical data of 10 children with XLH was retrospectively reviewed. The relationship between gene mutation type and severity of XLH was evaluated.


RESULTS
PHEX gene mutations were detected in all 10 children with XLH, including 6 cases of missense mutation, 2 cases of splice site mutation, 1 case of frameshift mutation, and 1 case of nonsense mutation. Two new mutations, c.2048T>C and IVS14+1delAG, were found. The type of PHEX gene mutation was not associated with the degree of short stature and leg deformity (P=0.571 and 0.467), and the mutation site was also not associated with the degree of short stature and leg deformity (P=0.400 and 1.000).


CONCLUSIONS
Missense mutation is the most common type of PHEX gene mutation in children with XLH, and c.2048T>C and IVS14+1delAG are two new PHEX gene mutations. The type and site of PHEX gene mutation are not associated with the severity of XLH.
Ying
Y
Song
Hong-Wei
HW
Ma
Fang
F
Li
Man
M
Hu
Shuang
S
Ren
Ya-Fen
YF
Yu
Gui-Jie
GJ
Zhao
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D053098:Familial Hypophosphatemic Rickets / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D053402:PHEX Phosphate Regulating Neutral Endopeptidase / Q000235:genetics*; D012189:Retrospective Studies
D053402:PHEX Phosphate Regulating Neutral Endopeptidase; C506231:PHEX protein, human