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  Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

Kalscheuer, V. M., Feenstra, I., Van Ravenswaaij-Arts, C. M. A., Smeets, D. F., Menzel, C., Ullmann, R., et al. (2008). Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. American Journal of Medical: Genetics Part A, 146 A(16), 2053-2059. doi:10.1002/ajmg.a.32419.

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Genre: Journal Article
Alternative Title : Am J Mede Genet Part A

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Kalscheuer, Vera M.1, Author           
Feenstra, Ilse, Author
Van Ravenswaaij-Arts, Conny M. A., Author
Smeets, Dominique F.C.M., Author
Menzel, Corinna2, Author
Ullmann, Reinhard3, Author           
Musante, Luciana4, Author           
r Ropers, Hans-Hilge2, Author
Affiliations:
1Chromosome 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              
2Max Planck Society, ou_persistent13              
3Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              
4Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479644              

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Free keywords: TCF4 • mental retardation • chromosome translocation • Pitt-Hopkins syndrome
 Abstract: We have characterized a de novo balanced translocation t(18;20)(q21.1;q11.2) in a female patient with mild to moderate mental retardation (MR) and minor facial anomalies. Breakpoint-mapping by fluorescence in situ hybridization indicated that on chromosome 18, the basic helix-loop-helix transcription factor TCF4 gene is disrupted by the breakpoint. TCF4 plays a role in cell fate determination and differentiation. Only recently, mutations in this gene have been shown to result in Pitt-Hopkins syndrome (PHS), defined by severe MR, epilepsy, mild growth retardation, microcephaly, daily bouts of hyperventilation starting in infancy, and distinctive facial features with deep-set eyes, broad nasal bridge, and wide mouth with widely spaced teeth. Breakpoint mapping on the derivative chromosome 20 indicated that here the rearrangement disrupted the chromodomain helicase DNA binding protein 6 (CHD6) gene. To date, there is no indication that CHD6 is involved in disease. Our study indicates that TCF4 gene mutations are not always associated with classical PHS but can give rise to a much milder clinical phenotype. Thus, the possibility exists that more patients with a less severe encephalopathy carry a mutation in this gene. © 2008 Wiley-Liss, Inc.

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Language(s): eng - English
 Dates: 2008-07-14
 Publication Status: Published in print
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Title: American Journal of Medical : Genetics Part A
  Alternative Title : Am J Mede Genet Part A
Source Genre: Journal
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Pages: - Volume / Issue: 146 A (16) Sequence Number: - Start / End Page: 2053 - 2059 Identifier: -