Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome Hans Christian Hennies, Anita Rauch, Wenke Seifert, Christian Schumi,

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Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome Hans Christian Hennies, Anita Rauch, Wenke Seifert, Christian Schumi, Elisabeth Moser, Eva Al-Taji, Gholamali Tariverdian, Krystyna H. Chrzanowska, Malgorzata Krajewska-Walasek, Anna Rajab, Roberto Giugliani, Thomas E. Neumann, Katja M. Eckl, Mohsen Karbasiyan, André Reis, Denise Horn The American Journal of Human Genetics Volume 75, Issue 1, Pages 138-145 (July 2004) DOI: 10.1086/422219 Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 1 Facial photographs of patients, showing mild but characteristic facial dysmorphism of Cohen syndrome. Shown are patients 10 (A), 7 (B), 2/2 (C), 2/1 (D), 4 (E), and 11/3 (F). Their ages are 2 years, 2 years, 1 year, 4 years, 4.5 years, and 8 years, respectively. The American Journal of Human Genetics 2004 75, 138-145DOI: (10.1086/422219) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 2 Facial features of two older patients with Cohen syndrome. A, Patient 3, age 13 years. B, Patient 11/1, age 17 years. The American Journal of Human Genetics 2004 75, 138-145DOI: (10.1086/422219) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 3 Sequence analysis of COH1 in probands from the Lebanese family with Cohen syndrome (family 11). A, Splice mutation c.9406–1G→T, identified in DNA samples from two affected cousins, altering the splice acceptor site of intron 51. The position of the mutation is marked by an arrow. B, Analysis of RNA samples showing the activation of a cryptic splice site in exon 52, which leads to a frameshift because of a 16-bp deletion. The American Journal of Human Genetics 2004 75, 138-145DOI: (10.1086/422219) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 4 Phylogenetic tree of sequences with similarities to the deduced product of COH1. The corresponding gene names are given. The species are listed in square brackets; Ag = Anopheles gambiae; At = Arabidopsis thaliana; Dd = Dictyostelium discoideum; Dm = Drosophila melanogaster; Ec = Encephalitozoon cuniculi; Hs = Homo sapiens; Mm = Mus musculus; Rn = Rattus norvegicus; Sc = Saccharomyces cerevisiae; and Sp = Schizosaccharomyces pombe. The names of the gene products, when available, are shown in parentheses, and Vps = associated with vacuolar protein sorting. The American Journal of Human Genetics 2004 75, 138-145DOI: (10.1086/422219) Copyright © 2004 The American Society of Human Genetics Terms and Conditions