Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review

• Main Authors: Yu Zhang (Author), Linxia Deng (Author), Xiaohong Chen (Author), Yingjie Hu (Author), Yaxian Chen (Author), Kang Chen (Author), Jianhua Zhou (Author)
• Format: Book
• Published: BMC, 2021-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Oculocerebrorenal syndrome of Lowe is a rare X-linked disorder characterized by congenital cataracts, mental retardation, and proximal tubulopathy. This condition is caused by a mutation of OCRL gene (located at chromosome Xq26.1), which encodes an inositol polyphosphate 5-phosph...