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.

Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype / C. Cesaretti, L. Spaccini, A. Righini, C. Parazzini, G. Conte, F. Crosti, S. Redaelli, G. Bulfamante, L. Avagliano, M. Rustico. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - 170:5(2016 May), pp. 1352-1357. [10.1002/ajmg.a.37594]

Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype

C. Cesaretti;A. Righini;G. Conte;G. Bulfamante;L. Avagliano;
2016-05

Abstract

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.
MEF2C; 5q14.3 duplication; array-CGH; corpus callosum; rare diseases
Settore MED/08 - Anatomia Patologica
Settore MED/03 - Genetica Medica
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/513741
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