新型基因变异与产前和产后神经影像表型
Novel Genetic Variant in : Prenatal and Postnatal Neuroimaging Phenotype.
作者信息
Tortora Mario, Cattaneo Elisa, Spaccini Luigina, Iascone Maria, Scelsa Barbara, Micalizzi Alessia, Novelli Antonio, Lanna Mariano, Righini Andrea, Veggiotti Pierangelo, Doneda Chiara
机构信息
From the Department of Pediatric Radiology and Neuroradiology (M.T., A.R., C.D.); Clinical Genetics Unit (E.C.), Department of Pediatrics; Clinical Genetics Unit (L.S.), Department of Obstetrics and Gynecology, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Medical Genetics Laboratory (M.I.), Hospital Papa Giovanni XXIII, Bergamo; Pediatric Neurology Unit (B.S.), Department of Pediatrics, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Translational Cytogenomics Research Unit (A.M., A.N.), IRCCS Bambino Gesù Pediatric Hospital, Rome; Fetal Therapy Unit "U. Nicolini" (M.L.), Department of Obstetrics and Gynecology, Buzzi Childrens' Hospital, Milan; and Pediatric Neurology Unit (P.V.), "Vittore Buzzi" Children's Hospital, Department of Biomedical and Clinical Sciences "L. Sacco", University of Milan, Italy.
出版信息
Neurol Genet. 2024 Jun 13;10(4):e200169. doi: 10.1212/NXG.0000000000200169. eCollection 2024 Aug.
OBJECTIVES
To provide a comprehensive description of neuroradiologic findings in a patient with a probable pathogenic variant of , particularly in relation to pontine and cerebellar hypoplasia.
METHODS
We first report prenatal and postnatal neuroradiologic phenotype of a female patient carrying a likely pathogenic variant and discuss its function.
RESULTS
An ultrasound shows borderline ventriculomegaly, rotated cerebellar vermis, and dysgenetic corpus callosum. An MR study identify a short, thin corpus callosum, falcine sinus persistence, reduced cerebellar vermis size, wide inferior IV ventricle, and reduced pontine bulging.
DISCUSSION
is a gene encoding an E3 ubitiquine ligase protein involved in nervous system development, function, and disease. The mechanisms by which gene affects nervous system are still largely unclear, but a growing body of literature described disease-causing variants in this gene. This report may help prenatal diagnostic experts in consider also this entity, especially when dealing with pontine and cerebellar hypoplasia findings.
目的
全面描述一名携带可能的致病变异的患者的神经放射学表现，特别是与脑桥和小脑发育不全相关的表现。
方法
我们首先报告一名携带可能致病变异的女性患者的产前和产后神经放射学表型，并讨论其功能。
结果
超声显示脑室轻度扩张、小脑蚓部旋转和胼胝体发育不全。磁共振成像研究发现胼胝体短而薄、大脑镰窦持续存在、小脑蚓部尺寸减小、第四脑室下部增宽以及脑桥膨出减少。
讨论
[基因名称]是一种编码参与神经系统发育、功能和疾病的E3泛素连接酶蛋白的基因。[基因名称]基因影响神经系统的机制仍不清楚，但越来越多的文献描述了该基因中的致病变异。本报告可能有助于产前诊断专家也考虑这一实体，特别是在处理脑桥和小脑发育不全的表现时。
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