TY - JOUR
T1 - Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype
AU - Cesaretti, Claudia
AU - Spaccini, Luigina
AU - Righini, Andrea
AU - Parazzini, Cecilia
AU - Conte, Giorgio
AU - Crosti, Francesca
AU - Redaelli, Serena
AU - Bulfamante, Gaetano
AU - Avagliano, Laura
AU - Rustico, Mariangela
PY - 2016/5/1
Y1 - 2016/5/1
N2 - 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.
AB - 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.
KW - 5q14.3 duplication
KW - Array-CGH
KW - Corpus callosum
KW - MEF2C
KW - Rare diseases
UR - http://www.scopus.com/inward/record.url?scp=84962892958&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84962892958&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.37594
DO - 10.1002/ajmg.a.37594
M3 - Article
AN - SCOPUS:84962892958
VL - 170
SP - 1352
EP - 1357
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 5
ER -