Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1

Seifert, W., Holder-Espinasse, M., Kühnisch, J., Kahrizi, K., Tzschach, A., Garshasbi, M., Najmabadi, H., Walter, Kuss A., Kress, W., Laureys, G., Loeys, B., Brilstra, E., Mancini, G.M., Dollfus, H., Dahan, K., Apse, K., Hennies, Hans C. and Horn, D. (2008) Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. Human Mutation, 30 (2). pp. 404-420. ISSN 1059-7794

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Abstract

Cohen syndrome is characterised by mental retardation, postnatal microcephaly, facial dysmorphism, pigmentary retinopathy, myopia, and intermittent neutropenia. Mutations in COH1 (VPS13B) have been found in patients with Cohen syndrome from diverse ethnic origins. We have carried out mutation analysis in twelve novel patients with Cohen syndrome from nine families. In this series, we have identified 13 different mutations in COH1, twelve of these are novel including six frameshift mutations, four nonsense mutations, two splice site mutations, and a one-codon deletion. Since different transcripts of COH1 have been reported previously, we have analysed the expression patterns of COH1 splice variants. The transcript variant NM_152564 including exon 28b showed ubiquitous expression in all examined human tissues. In contrast, human brain and retina showed differential splicing of exon 28 (NM_017890). Moreover, analysis of mouse tissues revealed ubiquitous expression of Coh1 homologous to human NM_152564 in all examined tissues but no prevalent alternative splicing.

Item Type:	Article
Additional Information:	Unmapped bibliographic data: ST - Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1 [Field not mapped to EPrints] LB - 80 [Field not mapped to EPrints] RP - Not in File [Field not mapped to EPrints]
Uncontrolled Keywords:	Alternative Splicing
Subjects:	Q Science > QH Natural history > QH301 Biology Q Science > QH Natural history > QH426 Genetics
Schools:	School of Applied Sciences
Related URLs:	Author
Depositing User:	Hans Hennies
Date Deposited:	12 Jul 2016 09:56
Last Modified:	29 Jul 2016 14:44
URI:	http://eprints.hud.ac.uk/id/eprint/28791

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