Gene mutation analysis of X-linked hypophosphatemic rickets / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 928-931, 2013.
Article
in Chinese
| WPRIM
| ID: wpr-345677
ABSTRACT
<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>Clinical data of 10 children with XLH was retrospectively reviewed. The relationship between gene mutation type and severity of XLH was evaluated.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSIONS</b>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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Retrospective Studies
/
Familial Hypophosphatemic Rickets
/
PHEX Phosphate Regulating Neutral Endopeptidase
/
Genetics
/
Mutation
Type of study:
Observational study
Limits:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2013
Type:
Article
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