FOXG1 is responsible for the congenital variant of Rett syndrome

被引：313

作者：

Ariani, Francesca ^{[1
]}

Hayek, Giuseppe ^{[2
]}

Rondinella, Dalila ^{[1
]}

Artuso, Rosangela ^{[1
]}

Mencarelli, Maria Antonietta ^{[1
]}

Spanhol-Rosseto, Ariele ^{[1
]}

Pollazzon, Marzia ^{[1
]}

Buoni, Sabrina ^{[2
]}

Spiga, Ottavia ^{[3
]}

Ricciardi, Sara ^{[4
]}

Meloni, Ilaria ^{[1
]}

Longo, Ilaria ^{[1
]}

Mari, Francesca ^{[1
]}

Broccoli, Vania ^{[4
]}

Zappella, Michele ^{[2
]}

Renieri, Alessandra ^{[1
]}

机构：

[1] Univ Siena, Dept Mol Biol, I-53100 Siena, Italy

[2] Child Neuropsychiatry Univ Hosp, AOUS, I-53100 Siena, Italy

[3] Univ Siena, Dept Mol Biol, I-53100 Siena, Italy

[4] Ist Sci San Raffaele, I-20132 Milan, Italy

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2008年 / 83卷 / 01期

关键词：

D O I：

10.1016/j.ajhg.2008.05.015

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Rett syndrome is a severe neurodevelopmental disease caused by mutations in the X-linked gene encoding for the methyl-CpG-binding protein MeCP2. Here, we report the identification of FOXG1-truncating mutations in two patients affected by the congenital variant of Rett syndrome. FOXG1 encodes a brain-specific transcriptional repressor that is essential for early development of the telencephalon. Molecular analysis revealed that Foxg1 might also share common molecular mechanisms with MeCP2 during neuronal development, exhibiting partially overlapping expression domain in postnatal cortex and neuronal subnuclear localization.

引用

页码：89 / 93

页数：5

共 27 条

[1] Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication [J].