Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
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.
Katzaki
Eleni
E
Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.
Pescucci
Chiara
C
Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.
Uliana
Vera
V
Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.
Papa
Filomena Tiziana
FT
Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.
Ariani
Francesca
F
Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.
Meloni
Ilaria
I
Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.
Priolo
Manuela
M
Medical Genetics Hospital of Reggio Calabria, Reggio Calabria, Italy.
Selicorni
Angelo
A
Pediatric Unit, University of Milan, Milan, Italy.
Milani
Donatella
D
Pediatric Unit, University of Milan, Milan, Italy.
Fischetto
Rita
R
U.O. Metabolic Disease-Medical Genetics, P.O.Giovanni XXIII-A.O.U. Policlinico Consorziale, Bari, Italy.
Celle
Maria Elena
ME
Child Neuropsychiatric Unit, G. Gaslini Institute, University of Genova, Genova, Italy.
Grasso
Rita
R
IRCCS MEDEA, Bosisio Parini, Lecco, Italy.
Dallapiccola
Bruno
B
IRCCS CSS, Mendel Institute, Rome, Italy.|Department of Experimental Medicine and Pathology, La Sapienza University, Rome, Italy.
Brancati
Francesco
F
IRCCS CSS, Mendel Institute, Rome, Italy.
Bordignon
Marta
M
Clinical Genetics and Epidemiology, University of Padova, Padova, Italy.
Tenconi
Romano
R
Clinical Genetics and Epidemiology, University of Padova, Padova, Italy.
Federico
Antonio
A
Department of Neurological and Behavioural Sciences, University of Siena, Siena, Italy.
Mari
Francesca
F
Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.
Renieri
Alessandra
A
Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy. renieri@unisi.it.
Longo
Ilaria
I
Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.
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
C475722:VPS13B protein, human; D033921:Vesicular Transport Proteins