[P3-150] One Case Report of Children Lowe Syndrome with OCRL Gene Mutation and Literature Review
Abstract Purpose:To investigate the clinical characteristics of children Lowe syndrome and the features of the OCRL (Oculocerebrorenal syndrome of Lowe)gene mutation.Methods:To analysis the clinical data and the result of OCRL gene detection of one pediatric patient with Lowe syndrome and review the related literatures.Results: This is a male children who have the typical triad of congenital cataracts, intellectual disability, and renal tubular dysfunction. And we detect that there is a frame-shift mutation of his OCRL gene:c.1230(exon12)delC.It is a de novo variant which haven’t been reported before.Conclusions:The diagnosis of Lowe syndrome mainly depends on the triad of congenital cataracts, intellectual disability, and renal tubular dysfunction,as well as the OCRL gene detection.In our research ,we detect a de novo variant in the OCRL gene.