Prenatal Detection of 5q14.3 Duplication Including MEF2C and Brain Phenotype

被引：10

作者：

Cesaretti, Claudia ^{[1
]}

Spaccini, Luigina ^{[2
]}

Righini, Andrea ^{[3
]}

Parazzini, Cecilia ^{[3
]}

Conte, Giorgio ^{[3
,4
]}

Crosti, Francesca ^{[5
]}

Redaelli, Serena ^{[6
]}

Bulfamante, Gaetano ^{[7
]}

Avagliano, Laura ^{[7
]}

Rustico, Mariangela ^{[2
]}

机构：

[1] Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, Milan, Italy

[2] Childrens Hosp V Buzzi, Dept Obstet & Gynaecol, Fetal Therapy Unit, Milan, Italy

[3] Childrens Hosp V Buzzi, Dept Radiol & Neuroradiol, Milan, Italy

[4] Univ Milan, Specializat Sch Radiol, Dept Hlth Sci, Milan, Italy

[5] San Gerardo Hosp, Pathol Unit, Med Genet Lab, Monza, Italy

[6] Univ Milano Bicocca, Dept Surg & Traslat Med, Monza, Italy

[7] Univ Milan, San Paolo Hosp, Sch Med, Dept Hlth Sci, Milan, Italy

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2016年 / 170卷 / 05期

关键词：

MEF2C; 5q14.3; duplication; array-CGH; corpus callosum; rare diseases; SEVERE MENTAL-RETARDATION; MICRODELETION; MUTATIONS; MALFORMATION; ANOMALIES; REGION;

D O I：

10.1002/ajmg.a.37594

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2016 Wiley Periodicals, Inc.

引用

页码：1352 / 1357

页数：6

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