Clinical characteristics of a newborn with Lowe syndrome
M. V. Artyushevskaya,
A. P. Sukhareva,
E. P. Mikhalenko,
O. M. Malysheva,
Yu. S. Stankevich,
L. V. Shalkevich,
G. А. Sushchenya,
A. M. Kozarezova https://doi.org/10.21508/1027-4065-2025-70-6-61-67
Abstract
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.
About the Authors
M. V. Artyushevskaya
Belarusian State Medical University
Belarus
Belarus
220013, Minsk
A. P. Sukhareva
Belarusian State Medical University ; Clinical Maternity Hospital of the Minsk Region
Belarus
Belarus
220013, Minsk
220076, Minsk
E. P. Mikhalenko
Institute of Genetics and Cytology of the National Academy of Sciences
Belarus
Belarus
220072, Minsk
O. M. Malysheva
Institute of Genetics and Cytology of the National Academy of Sciences
Belarus
Belarus
220072, Minsk
Yu. S. Stankevich
Institute of Genetics and Cytology of the National Academy of Sciences
Belarus
Belarus
220072, Minsk
L. V. Shalkevich
Belarusian State Medical University
Belarus
Belarus
220013, Minsk
G. А. Sushchenya
Minsk Regional Children’s Clinical Hospital
Belarus
Belarus
223053, Minsk region
A. M. Kozarezova
Clinical Maternity Hospital of the Minsk Region
Belarus
Belarus
220076, Minsk
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For citations:
Artyushevskaya M.V., Sukhareva A.P., Mikhalenko E.P., Malysheva O.M., Stankevich Yu.S., Shalkevich L.V., Sushchenya G.А., Kozarezova A.M. Clinical characteristics of a newborn with Lowe syndrome. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2025;70(6):61-67. (In Russ.) https://doi.org/10.21508/1027-4065-2025-70-6-61-67
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