Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract
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 dis...
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| Format: | Article |
| Language: | English |
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Elsevier
2022-12-01
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| Series: | Heliyon |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844022034983 |
| _version_ | 1797960937008791552 |
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| author | Flavien Rouxel Julien Fauré Jean-Michel Faure Françoise Deschamps Gilles Burlet Anaig Flandrin Alain Couture Olivier Prodhomme John Rendu Marjolaine Willems |
| author_facet | Flavien Rouxel Julien Fauré Jean-Michel Faure Françoise Deschamps Gilles Burlet Anaig Flandrin Alain Couture Olivier Prodhomme John Rendu Marjolaine Willems |
| author_sort | Flavien Rouxel |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-11T00:51:45Z |
| format | Article |
| id | doaj.art-fa2056a3ce204839b08ccbebd0519224 |
| institution | Directory Open Access Journal |
| issn | 2405-8440 |
| language | English |
| last_indexed | 2024-04-11T00:51:45Z |
| publishDate | 2022-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Heliyon |
| spelling | doaj.art-fa2056a3ce204839b08ccbebd05192242023-01-05T08:39:24ZengElsevierHeliyon2405-84402022-12-01812e12210Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataractFlavien Rouxel0Julien Fauré1Jean-Michel Faure2Françoise Deschamps3Gilles Burlet4Anaig Flandrin5Alain Couture6Olivier Prodhomme7John Rendu8Marjolaine Willems9Department of Medical Genetics, Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Montpellier University, Centre Hospitalier Montpellier, 34090 Montpellier, FranceUniv. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, GIN, FranceDepartement of obstetrics and gynecology, CHRU Montpellier, FranceDepartement of obstetrics and gynecology, CHRU Montpellier, FranceDepartement of obstetrics and gynecology, CHRU Montpellier, FranceDepartement of obstetrics and gynecology, CHRU Montpellier, FranceDepartment of Pediatric Radiology, CHRU Montpellier, FranceDepartment of Pediatric Radiology, CHRU Montpellier, FranceUniv. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, GIN, FranceDepartment 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.http://www.sciencedirect.com/science/article/pii/S2405844022034983FetusOCRLX-linkedLowe syndromeIsolated cataract |
| spellingShingle | Flavien Rouxel Julien Fauré Jean-Michel Faure Françoise Deschamps Gilles Burlet Anaig Flandrin Alain Couture Olivier Prodhomme John Rendu Marjolaine Willems Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract Heliyon Fetus OCRL X-linked Lowe syndrome Isolated cataract |
| title | Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract |
| title_full | Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract |
| title_fullStr | Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract |
| title_full_unstemmed | Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract |
| title_short | Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract |
| title_sort | prenatal diagnosis of lowe syndrome in a male fetus with isolated bilateral cataract |
| topic | Fetus OCRL X-linked Lowe syndrome Isolated cataract |
| url | http://www.sciencedirect.com/science/article/pii/S2405844022034983 |
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