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
em Zh
| WPRIM
| ID: wpr-496470
Biblioteca responsável:
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.
Texto completo:
1
Base de dados:
WPRIM
Idioma:
Zh
Revista:
Chinese Journal of Pathophysiology
Ano de publicação:
2016
Tipo de documento:
Article