Clinical features and OCRL mutation analysis in a case of infant Lowe syndrome
10.3969/j.issn.1000-4718.2016.07.024
- VernacularTitle:1例婴儿Lowe综合征临床特征和OCRL基因分析
- Author:
Bingxiao LI
;
Zhanhui ZHANG
;
Qinghua ZHOU
;
Jing YANG
;
Xia WU
;
Guosheng LIU
- Publication Type:Journal Article
- Keywords:
The Lowe syndrome;
OCRL gene;
Infant
- From:
Chinese Journal of Pathophysiology
2016;32(7):1302-1306
- CountryChina
- Language:Chinese
-
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.
