title: Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
abstract: Cohen syndrome is an autosomal recessive disorder with variability in the clinical manifestations, characterized by developmental delay, visual disability, facial dysmorphisms and intermittent neutropenia. We described a cohort of 10 patients affected by Cohen syndrome from nine Italian families ranging from 5 to 52 years at assessment. Characteristic age related facial changes were well documented. Visual anomalies, namely retinopathy and myopia, were present in 9/10 patients (retinopathy in 9/10 and myopia in 8/10). Truncal obesity has been described in all patients older than 6 years (8/8). DNA samples from all patients were analyzed for mutations in COH1 by DHPLC. We detected 15 COH1 alterations most of them were truncating mutations, only one being a missense change. Partial gene deletions have been found in two families. Most mutations were private. Two were already reported in the literature just once. A single base deletion leading to p.T3708fs3769, never reported before, was found in three apparently unrelated families deriving from a restricted area of the Veneto's lowland, between Padova town and Tagliamento river, in heterozygous state. Given the geographical conformation of this region, which is neither geographically or culturally isolated, a recent origin of the mutation could be hypothesized.
authors.affiliation: Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.
authors.forename: Eleni
authors.initials: E
authors.lastname: Katzaki
authors.affiliation: Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Pescucci
authors.affiliation: Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.
authors.forename: Vera
authors.initials: V
authors.lastname: Uliana
authors.affiliation: Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.
authors.forename: Filomena Tiziana
authors.initials: FT
authors.lastname: Papa
authors.affiliation: Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Ariani
authors.affiliation: Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Meloni
authors.affiliation: Medical Genetics Hospital of Reggio Calabria, Reggio Calabria, Italy.
authors.forename: Manuela
authors.initials: M
authors.lastname: Priolo
authors.affiliation: Pediatric Unit, University of Milan, Milan, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Selicorni
authors.affiliation: Pediatric Unit, University of Milan, Milan, Italy.
authors.forename: Donatella
authors.initials: D
authors.lastname: Milani
authors.affiliation: U.O. Metabolic Disease-Medical Genetics, P.O.Giovanni XXIII-A.O.U. Policlinico Consorziale, Bari, Italy.
authors.forename: Rita
authors.initials: R
authors.lastname: Fischetto
authors.affiliation: Child Neuropsychiatric Unit, G. Gaslini Institute, University of Genova, Genova, Italy.
authors.forename: Maria Elena
authors.initials: ME
authors.lastname: Celle
authors.affiliation: IRCCS MEDEA, Bosisio Parini, Lecco, Italy.
authors.forename: Rita
authors.initials: R
authors.lastname: Grasso
authors.affiliation: IRCCS CSS, Mendel Institute, Rome, Italy.|Department of Experimental Medicine and Pathology, La Sapienza University, Rome, Italy.
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
authors.affiliation: IRCCS CSS, Mendel Institute, Rome, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Brancati
authors.affiliation: Clinical Genetics and Epidemiology, University of Padova, Padova, Italy.
authors.forename: Marta
authors.initials: M
authors.lastname: Bordignon
authors.affiliation: Clinical Genetics and Epidemiology, University of Padova, Padova, Italy.
authors.forename: Romano
authors.initials: R
authors.lastname: Tenconi
authors.affiliation: Department of Neurological and Behavioural Sciences, University of Siena, Siena, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
authors.affiliation: Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Mari
authors.affiliation: Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy. renieri@unisi.it.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Renieri
authors.affiliation: Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Longo
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D015331:Cohort Studies; D019465:Craniofacial Abnormalities / Q000235:genetics; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009503:Neutropenia / Q000235:genetics; D009765:Obesity / Q000235:genetics; D013577:Syndrome; D033921:Vesicular Transport Proteins / Q000235:genetics*; D014786:Vision Disorders / Q000235:genetics
chemical_list: C475722:VPS13B protein, human; D033921:Vesicular Transport Proteins