1例婴儿Lowe综合征临床特征和OCRL基因分析

目的:探讨Lowe综合征的临床、影像特点及基因特征。方法:分析1例10月大Lowe综合征患儿的临床资料,头颅核磁共振(MRI)特征及其致病基因OCRL突变检测结果。结果:患儿有先天性白内障、眼球震颤、精神运动发育落后、肌张力低下、蛋白尿及血尿等临床表现。头颅MRI提示患者脑白质髓鞘发育落后,双侧额颞叶发育不良,蛛网膜下腔增宽。OCRL基因检测发现一新发缺失突变NM_000276.3:c.1280-1281del TT(p.Cys428Hisfs*2),该突变未见文献报道。结论:Lowe综合征的诊断主要通过临床表现和OCRL基因检测,本研究发现的OCRL基因新突变丰富了该基因的致病突变谱。

Clinical features and OCRL mutation analysis in a case of infant Lowe syndrome

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 retardation. MRI showed white matter myelination delay, bilateral frontal and temporal dysplasia, and subarachnoid cavity enlargement. 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 reported previously.CONCLUSION: The clinical manifestations suggested a phenotype of Lowe syndrome, and molecular genetic testing confirmed the diagnosis. The novel de novo mutation enriches the OCRL mutation spectrum.