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

MPG-Autoren

Kühnisch,  Jirko
Max Planck Society;

http://pubman.mpdl.mpg.de/cone/persons/resource/persons50604

Tzschach,  Andreas
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

http://pubman.mpdl.mpg.de/cone/persons/resource/persons50163

Garshasbi,  Masoud
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

Kuss,  Andreas Walter
Max Planck Society;

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Zitation

Seifert, W., Holder-Espinasse, M., Kühnisch, J., Kahrizi, K., Tzschach, A., Garshasbi, M., et al. (2008). Expanded mutational spectrum in Cohen Syndrome, tissue expression, and transcript variants of COH1. Human Mutation, 30(2), E404-E420. doi:10.1002/humu.20886.


Zitierlink: http://hdl.handle.net/11858/00-001M-0000-0010-7EB1-E
Zusammenfassung
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.