Lowe syndrome with novel OCRL mutations in Chinese children:report of two cases / 临床儿科杂志

ABSTRACT

Objective To study the clinical and genetic features of Lowe syndrome. Methods The clinical data and test results of OCRL gene from two children with Lowe syndrome were analyzed. The related literatures were reviewed. Re-sults Two male patients all presented with low molecular proteinuria, hypercalciuria, rickets and nephrolithiasis. Patient 2 had renal tubular acidosis, glycosuria and cryptochism. Patient 1 was found to have abnormal vision and congenital cataract soon after birth and treated surgically. Patient 1 also had psychomotor retardation and the cranial magnetic resonance ima-ging (MRI) showed agenesis of the corpus callosum. Patient 2 did not have obviously extra-renal symptoms, but was found to have mild cataract by a meticulous ophthalmological examination. MRI showed cerebral hypoplasia and myelination delay and mental retardation was gradually appeared during follow-up. Two OCRL gene mutations were detected. A splice site mutation NG_008638.1g.46846-46848delTAA/insC was found in patient 1 and a frame shift mutation NM_000276.3c.321delC in exon 5 was found in patient 2. Both mutations were not reported previously. Conclusions The diagnosis of Lowe syndrome is mainly by clinical manifestations and test of OCRL gene. Lowe syndrome needs to be included in the differential diagnosis of a patient with congenital cataract and renal tubulopathy. Two novel mutations in the OCRL gene were identiifed.