TY - JOUR
T1 - Clinical and molecular characterization of Italian patients affected by Cohen syndrome
AU - Katzaki, Eleni
AU - Pescucci, Chiara
AU - Uliana, Vera
AU - Papa, Filomena Tiziana
AU - Ariani, Francesca
AU - Meloni, Ilaria
AU - Priolo, Manuela
AU - Selicorni, Angelo
AU - Milani, Donatella
AU - Fischetto, Rita
AU - Celle, Maria Elena
AU - Grasso, Rita
AU - Dallapiccola, Bruno
AU - Brancati, Francesco
AU - Bordignon, Marta
AU - Tenconi, Romano
AU - Federico, Antonio
AU - Mari, Francesca
AU - Renieri, Alessandra
AU - Longo, Ilaria
PY - 2007/12
Y1 - 2007/12
N2 - 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.
AB - 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.
KW - COH1
KW - Cohen syndrome
KW - DHPLC
KW - Founder effect
KW - Heterogeneity
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U2 - 10.1007/s10038-007-0208-4
DO - 10.1007/s10038-007-0208-4
M3 - Article
C2 - 17990063
AN - SCOPUS:36448942590
VL - 52
SP - 1011
EP - 1017
JO - Journal of Human Genetics
JF - Journal of Human Genetics
SN - 1434-5161
IS - 12
ER -