Clinical features and OCRL mutation analysis in a case of infant Lowe syndrome / 中国病理生理杂志
Chinese Journal of Pathophysiology
; (12): 1302-1306, 2016.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-496470
Responsible library:
WPRO
ABSTRACT
[ ABSTRACT ] AIM:
To characterize the phenotypic and genetic features of a patient with Lowe syndrome.METHODS:
The clinical data and the MRI of a ten-month-old patient were analyzed.At the same time, all exons of the OCRL gene of the patient and his parents were amplified and Sanger-sequenced.RESULTS:
Clinical analysis revealed that the patient has abnormal vision, nystagmus, congenital cataract, hypotonia, proteinuria, hematuria and psychomotor retar-dation.MRI showed white matter myelination delay, bilateral frontal and temporal dysplasia, and subarachnoid cavity en-largement.The results of PCR and Sanger sequencing detected a de novo mutation, NM_000276.3 c.1280-1281delTT (p.Cys428Hisfs*2), a deletion causing a frame shift.To our knowledge, this mutation in OCRL gene has not been repor-ted previously.CONCLUSION:
The clinical manifestations suggested a phenotype of Lowe syndrome, and molecular ge-netic testing confirmed the diagnosis.The novel de novo mutation enriches the OCRL mutation spectrum.
Full text:
Available
Database:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Pathophysiology
Year:
2016
Document type:
Article