Clinical characteristics of a newborn with Lowe syndrome

Oculocerebrorenal syndrome (Lowe syndrome) is a rare disease with an X-linked type of inheritance. Lowe syndrome occurs as a result of mutations in the OCRL gene (Xq25). The disease is characterized by eye damage, neurological disorders and renal dysfunction leading to renal failure. A clinical observation of a newborn child K. with the onset of the disease and genetic verification of the diagnosis in the neonatal period is presented. The leading clinical features in the clinical picture were: muscle hypotonia syndrome, congenital ventriculomegaly, congenital cataract of both eyes, proteinuria. The diagnosis is suspected: «E72.03 Lowe oculocerebrorenal syndrome». The diagnosis was confirmed by whole exome sequencing: a variant of the nucleotide sequence in exon 16 of the OCRL gene (chrX-129575174-TC-) was detected in the hemizygous state, leading to a nonsense substitution (NM_000276:c.1638_1639del:p. Phe547Ter). The identified variant was verified by direct Sanger sequencing. A rare hereditary disease was diagnosed in the neonatal period, which made it possible to provide a personalized approach to providing medical care to this patient due to his high comorbidity, and to plan a medical genetic examination of the family.