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New nucleotide sequence variant of the OCRL gene in a newborn with Lowe syndrome
https://doi.org/10.25557/2073-7998.2025.08.35-36
Abstract
Oculo-cerebro-renal syndrome (Lowe’s syndrome) belongs to rare X-linked diseases with recessive type of inheritance. We present a clinical observation of a newborn child with the debut of the disease and verification of the diagnosis in the neonatal period. The clinical picture was defined by the syndrome of muscular hypotonia, congenital ventriculomegaly, congenital cataract of both eyes, nephropathy with proteinuria. Based on the combined pathology, the diagnosis of the newborn was suspected: E72.03 Oculo-cerebro-renal Lowe syndrome. The diagnosis was confirmed by genetic testing using full-exome sequencing. A new nucleotide sequence variant (deletion of two nucleotides) in exon 16 of the OCRL gene in hemizygous state leading to a nonsense substitution (c.1638_1639del: p.Phe547Ter) was detected in the patient. This made it possible to timely determine the stages of specialized care for the patient and to plan medical and genetic counseling of the family.
Keywords
Lowe syndrome,
newborn,
muscular hypotonia,
congenital ventriculomegaly,
congenital cataract,
proteinuria,
OCRL gene
Supporting agencies: The study was not supported by sponsorship
About the Authors
M. V. Artsiusheuskaya
Belarusian State Medical University; Clinical Maternity Hospital of Minsk Region
Belarus
Belarus
220083; 83, Dzerzhinski Ave.; 220076; 16, Francysk Skaryna st.; Minsk
A. P. Mikhalenka
Institute of Genetics and Cytology of the National Academy of Sciences of Belarus
Belarus
Belarus
220072; 27, Akademicheskaya st.; Minsk
A. P. Sukharava
Belarusian State Medical University; Clinical Maternity Hospital of Minsk Region
Belarus
Belarus
220083; 83, Dzerzhinski Ave.; 20076; 16, Francysk Skaryna st.; Minsk
V. M. Malyshava
Institute of Genetics and Cytology of the National Academy of Sciences of Belarus
Belarus
Belarus
220072; 27, Akademicheskaya st.; Minsk
Y. S. Stankevich
Institute of Genetics and Cytology of the National Academy of Sciences of Belarus
Belarus
Belarus
220072; 27, Akademicheskaya st.; Minsk
S. V. Baiko
Belarusian State Medical University
Belarus
Belarus
220083; 83, Dzerzhinski Ave.; Minsk
Н. А. Sushchenia
Minsk Regional Children’s Clinical Hospital
Belarus
Belarus
223053; 19B/5, Frunzenskaya st.; Minsk region; Minsk district; Borovlyany s/s; Borovlyany
References
1. Bökenkamp A., Ludwig M. The oculocerebrorenal syndrome of Lowe: an update. Pediatr Nephrol. 2016;31(12):2201–2212.
Review
For citations:
Artsiusheuskaya M.V., Mikhalenka A.P., Sukharava A.P., Malyshava V.M., Stankevich Y.S., Baiko S.V., Sushchenia Н.А. New nucleotide sequence variant of the OCRL gene in a newborn with Lowe syndrome. Medical Genetics. 2025;24(8):35-36. (In Russ.) https://doi.org/10.25557/2073-7998.2025.08.35-36
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