Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract
Flavien Rouxel,
Julien Fauré,
Jean-Michel Faure,
Françoise Deschamps,
Gilles Burlet,
Anaig Flandrin,
Alain Couture,
Olivier Prodhomme,
John Rendu,
Marjolaine Willems
Affiliations
Flavien Rouxel
Department of Medical Genetics, Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Montpellier University, Centre Hospitalier Montpellier, 34090 Montpellier, France
Julien Fauré
Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, GIN, France
Jean-Michel Faure
Departement of obstetrics and gynecology, CHRU Montpellier, France
Françoise Deschamps
Departement of obstetrics and gynecology, CHRU Montpellier, France
Gilles Burlet
Departement of obstetrics and gynecology, CHRU Montpellier, France
Anaig Flandrin
Departement of obstetrics and gynecology, CHRU Montpellier, France
Alain Couture
Department of Pediatric Radiology, CHRU Montpellier, France
Olivier Prodhomme
Department of Pediatric Radiology, CHRU Montpellier, France
John Rendu
Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, GIN, France
Marjolaine Willems
Department of Medical Genetics, Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Montpellier University, Centre Hospitalier Montpellier, 34090 Montpellier, France; Institute for Neurosciences of Montpellier, Univ Montpellier, INSERM, Montpellier, France; Corresponding author.
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.
