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  Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

Shoichet, S. A., Kunde, S.-A., Viertel, P., Schell-Apacik, C., von Voss, H., Tommerup, N., et al. (2005). Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly. Human Genetics, 117(6), 536-544. doi:10.1007/s00439-005-1310-3.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-85C1-6 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-85C2-4
Genre: Journal Article
Alternative Title : Hum. Genet.

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 Creators:
Shoichet, Sarah A.1, Author              
Kunde, Stella-Amrei2, Author
Viertel, Petra2, Author
Schell-Apacik, Can, Author
von Voss, Hubertus, Author
Tommerup, Niels, Author
Ropers, Hans-Hilger1, Author              
Kalscheuer, Vera M.3, Author              
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Max Planck Society, ou_persistent13              
3Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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Free keywords: FOXG1 Agenesis of the corpus callosum Microcephaly - Chromosome 14 Balanced translocation Mental retardation BF-1
 Abstract: t We have investigated the chromosome abnormalities in a female patient exhibiting a severe cognitive disability associated with complete agenesis of the corpus callosum and microcephaly. The patient carries a balanced de novo translocation t(2;14)(p22;q12), together with a neighbouring 720 kb inversion in chromosome 14q12. By combined fluorescence in situ hybridisation and Southern hybridisation, the distal inversion breakpoint on chromosome 14 was mapped to a region harbouring genes and ESTs derived predominantly from brain tissue. RT-PCR studies indicated that these transcripts comprise the 3prime ends of novel splice variants of the winged helix transcription factor FOXG1B (also referred to in previous studies as FOXG1A and FOXG1C, as well as Brain Factor 1), the mouse orthologue of which is essential for normal development of the telencephalon. Analysis of these novel FOXG1B transcripts indicated that they are all disrupted by the breakpoint in the patient. Moreover, we have identified novel orthologous Foxg1 transcripts in the mouse and other vertebrates, which validates the functional importance of these variants and provides a direct genetic link between the patient phenotype and that of the heterozygous Foxg1 knockout mice. These results, together with previously published studies on patients with similar disorders and proximal 14q deletions, strongly suggest that several disorders associated with malformations of the human brain may be directly caused by mutations or alterations in the FOXG1B gene.

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Language(s): eng - English
 Dates: 2005-08-17
 Publication Status: Published in print
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 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 271590
DOI: 10.1007/s00439-005-1310-3
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Title: Human Genetics
  Alternative Title : Hum. Genet.
Source Genre: Journal
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Pages: - Volume / Issue: 117 (6) Sequence Number: - Start / End Page: 536 - 544 Identifier: ISSN: 0340-6717