Cesaretti Claudia, Spaccini Luigina, Righini Andrea, Parazzini Cecilia, Conte Giorgio, Crosti Francesca, Redaelli Serena, Bulfamante Gaetano, Avagliano Laura, Rustico Mariangela
Medical Genetics Unit, Fondazione I.R.C.C.S. Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
Fetal Therapy Unit, Department of Obstetrics and Gynaecology, Children's Hospital V. Buzzi, Milan, Italy.
Am J Med Genet A. 2016 May;170A(5):1352-7. doi: 10.1002/ajmg.a.37594. Epub 2016 Feb 10.
The 5q14.3 duplication is a rare condition comprising speech and developmental delay, microcephaly, and mild ventriculomegaly. The region 5q14.3 contains several genes but the predominant role for the onset of the neurodevelopmental phenotype has been attributed to MEF2C. We describe the prenatal identification of 5q14.3 duplication, including MEF2C, in a monochorionic twin pregnancy with corpus callosum anomalies, confirmed by autopsy. To the best of our knowledge, this cerebral finding has been observed for the first time in 5q14.3 duplication patients, possibly widening the neurological picture of this scarcely known syndrome. A pathogenetic role of MEF2C overexpression in brain development may be assumed, but further studies are needed.
5q14.3重复是一种罕见病症，包括言语和发育迟缓、小头畸形以及轻度脑室扩大。5q14.3区域包含多个基因，但神经发育表型发作的主要作用归因于MEF2C。我们描述了在一例经尸检证实患有胼胝体异常的单绒毛膜双胎妊娠中5q14.3重复（包括MEF2C）的产前诊断。据我们所知，这种脑部发现首次在5q14.3重复患者中观察到，可能会拓宽这种鲜为人知综合征的神经学表现。可以推测MEF2C过表达在脑发育中具有致病作用，但还需要进一步研究。
