Rouxel Flavien, Fauré Julien, Faure Jean-Michel, Deschamps Françoise, Burlet Gilles, Flandrin Anaig, Couture Alain, Prodhomme Olivier, Rendu John, Willems Marjolaine
Department of Medical Genetics, Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Montpellier University, Centre Hospitalier Montpellier, 34090 Montpellier, France.
Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, GIN, France.
Heliyon. 2022 Dec 10;8(12):e12210. doi: 10.1016/j.heliyon.2022.e12210. eCollection 2022 Dec.
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.
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 gene was identified, inherited from the mother, which led to the diagnosis of Lowe syndrome in the fetus.
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 gene.
劳氏综合征是一种罕见疾病，其特征为先天性白内障、肌张力减退，随后出现全面的精神运动发育迟缓与智力残疾，以及进行性肾功能障碍，约20岁时会发生肾衰竭。
我们讨论了一名男性胎儿的病例。该胎儿在妊娠21 + 5周时进行超声检查诊断为孤立性双侧白内障，妊娠23周时经胎儿磁共振成像确诊。排除感染性病因后，在妊娠26周时进行了遗传咨询，并通过桑格分析进行羊膜穿刺术以寻找染色体病因、诺里病和劳氏综合征。在基因中鉴定出一个c.1351G > A（p.Asp451Asn）半合子突变，该突变遗传自母亲，这使得胎儿被诊断为劳氏综合征。
这是首例在产前基于孤立性白内障诊断出劳氏综合征的病例，这使得在男性胎儿被诊断为孤立性双侧白内障时能够讨论更广泛的病因研究，特别是包括对该基因的系统分析。
