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Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract

Authors :
Flavien Rouxel
Julien Fauré
Jean-Michel Faure
Françoise Deschamps
Gilles Burlet
Anaig Flandrin
Alain Couture
Olivier Prodhomme
John Rendu
Marjolaine Willems
Source :
Heliyon, Vol 8, Iss 12, Pp e12210- (2022)
Publication Year :
2022
Publisher :
Elsevier, 2022.

Abstract

Background: Lowe syndrome is a rare disease characterized by the association of congenital cataract, hypotonia, followed by global psychomotor delay and intellectual disability, as well as progressive renal dysfunction, and renal failure occurring at around 20 years of age. Case presentation: We discuss the case of a male fetus diagnosed with isolated bilateral cataract on the sonography performed at 21 + 5 weeks of gestation, confirmed by a fetal MRI at 23 weeks of gestation.After ruling out infectious etiologies, a genetic consult was conducted at 26 weeks of gestation, and an amniocentesis was realized to search for a chromosomal cause, Norrie's disease and Lowe syndrome by Sanger analysis. A c.1351G > A (p.Asp451Asn) hemizygous mutation in OCRL gene was identified, inherited from the mother, which led to the diagnosis of Lowe syndrome in the fetus. Conclusions: This is the first case of Lowe syndrome diagnosed prenatally on an isolated cataract, which allows the discussion of a more extensive etiological research when a male fetus is diagnosed with isolated bilateral cataract, by including notably a systematic analysis of the OCRL gene.

Details

Language :
English
ISSN :
24058440
Volume :
8
Issue :
12
Database :
Directory of Open Access Journals
Journal :
Heliyon
Publication Type :
Academic Journal
Accession number :
edsdoj.fa2056a3ce204839b08ccbebd0519224
Document Type :
article
Full Text :
https://doi.org/10.1016/j.heliyon.2022.e12210