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  Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly

Mller, R. S., Kübart, S., Hoeltzenbein, M., Heye, B., Vogel, I., Hansen, C. P., et al. (2008). Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. The American Journal of Human Genetics, 82(5), 1165-1170. doi:10.1016/j.ajhg.2008.03.001.

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Genre: Journal Article
Alternative Title : Am J Hum Genet

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Mller, Rikke S., Author
Kübart, Sabine1, Author
Hoeltzenbein, Maria1, Author
Heye, Babett, Author
Vogel, Ida, Author
Hansen, Christian P., Author
Menzel, Corinna1, Author
Ullmann, Reinhard2, Author           
Tommerup, Niels, Author
Ropers, Hans-Hilger3, Author           
Tümer, Zeynep, Author
Kalscheuer, Vera M.4, Author           
Affiliations:
1Max Planck Society, ou_persistent13              
2Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              
3Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
4Chromosome 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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 Abstract: We have identified and characterized two unrelated patients with prenatal onset of microcephaly, intrauterine growth retardation, feeding problems, developmental delay, and febrile seizures/epilepsy who both carry a de novo balanced translocation that truncates the DYRK1A gene at chromosome 21q22.2. DYRK1A belongs to the dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family, which is highly conserved throughout evolution. Given its localization in both the Down syndrome critical region and in the minimal region for partial monosomy 21, the gene has been studied intensively in animals and in humans, and DYRK1A has been proposed to be involved in the neurodevelopmental alterations associated with these syndromes. In the present study, we show that truncating mutations of DYRK1A result in a clinical phenotype including microcephaly.

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Title: The American Journal of Human Genetics
  Alternative Title : Am J Hum Genet
Source Genre: Journal
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Pages: - Volume / Issue: 82 (5) Sequence Number: - Start / End Page: 1165 - 1170 Identifier: -