Two cases of Lowe syndrome caused by a novel mutation in OCRL gene in a family

Abstract Background Lowe syndrome is a rare X-linked recessive genetic disease characterized by congenital binocular cataracts, central nervous system developmental delay, and progressive renal failure caused by tubular injury. Mutations in the OCRL gene can lead to two diseases: Dent-2 syndrome and Lowe syndrome. Case introduction: Two boys from a family have similar clinical manifestations, including congenital bilateral cataracts, mild developmental abnormalities, and low molecular weight proteinuria. Through whole exome sequencing, it was found that both boys had missense mutations on exon 21 (c.2302A > T, p.Ile768Phe), a newly discovered mutation site. Conclusion The discovery of Lowe syndrome in a family of children should be taken seriously, and genetic validation should be conducted on the remaining children in the family as soon as possible. Early intervention and treatment of the disease should be carried out to delay the progression.(This case report is a retrospective study. The parents of the patient have signed an informed consent form and agreed to publish the report. The clinical trial has not been registered.)