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Comment
. 2012 Jun;20(6):595-6; author reply 596-7.
doi: 10.1038/ejhg.2011.267. Epub 2012 Jan 18.

Questionable pathogenicity of FOXG1 duplication

David J Amor, Trent Burgess, Tiong Y Tan, Mark D Pertile
Comment

Questionable pathogenicity of FOXG1 duplication

David J Amor et al. Eur J Hum Genet. 2012 Jun.
No abstract available

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Figures

Figure 1
Figure 1
UCSC genome browser (NCBI36/hg18) view of reported proximal 14q duplications (blue bars) encompassing FOXG1 and neighbouring genes. Grey shadow highlights the duplicated region reported here. The colour reproduction of this figure is available at the European Journal of Human Genetics online.
See this image and copyright information in PMC

Comment in

  • Do regulatory regions matter in FOXG1 duplications?
    Falace A, Vanni N, Mallamaci A, Striano P, Zara F. Falace A, et al. Eur J Hum Genet. 2013 Apr;21(4):365-6. doi: 10.1038/ejhg.2012.142. Epub 2012 Jul 4. Eur J Hum Genet. 2013. PMID: 22763380 Free PMC article. No abstract available.

Comment on

References

    1. Brunetti-Pierri N, Paciorkowski AR, Ciccone R, et al. Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Eur J Hum Genet. 2011;19:102–107. - PMC - PubMed
    1. Yeung A, Bruno D, Scheffer IE, et al. 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment. Eur J Med Genet. 2009;52:440–442. - PubMed
    1. Striano P, Paravidino R, Sicca F, et al. West syndrome associated with 14q12 duplications harboring FOXG1. Neurology. 2011;76:1600–1602. - PubMed
    1. Tohyama J, Yamamoto T, Hosoki K, et al. West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14. Am J Med Genet. 2011;155:2584–2588. - PubMed
    1. Hanashima C, Li SC, Shen L, Lai E, Fishell G. Foxg1 suppresses early cortical cell fate. Science (New York, NY) 2004;303:56–59. - PubMed

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