Clinical and molecular characterization of Italian patients affected by Cohen syndrome

Eleni Katzaki, Chiara Pescucci, Vera Uliana, Filomena Tiziana Papa, Francesca Ariani, Ilaria Meloni, Manuela Priolo, Angelo Selicorni, Donatella Milani, Rita Fischetto, Maria Elena Celle, Rita Grasso, Bruno Dallapiccola, Francesco Brancati, Marta Bordignon, Romano Tenconi, Antonio Federico, Francesca Mari, Alessandra Renieri, Ilaria Longo

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)1011-1017
Number of pages7
JournalJournal of Human Genetics
Issue number12
Publication statusPublished - Dec 2007


  • COH1
  • Cohen syndrome
  • Founder effect
  • Heterogeneity

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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