Premium
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1
Author(s) -
Seifert Wenke,
HolderEspinasse Muriel,
Kühnisch Jirko,
Kahrizi Kimia,
Tzschach Andreas,
Garshasbi Masoud,
Najmabadi Hossein,
Walter Kuss Andreas,
Kress Wolfram,
Laureys Geneviève,
Loeys Bart,
Brilstra Eva,
Mancini Grazia M.S.,
Dollfus Hélène,
Dahan Karin,
Apse Kira,
Christian Hennies Hans,
Horn Denise
Publication year - 2009
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.20886
Subject(s) - biology , genetics , expression (computer science) , computational biology , programming language , computer science
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. © 2008 Wiley‐Liss, Inc.