Cohen syndrome resulting from a novel large intragenic COH1deletion segregating in an isolated Greek island populationHow to cite this article: Bugiani M, Gyftodimou Y, Tsimpouka P, Lamantea E, Katzaki E, dAdamo P, Nakou S, Georgoudi N, Grigoriadou M, Tsina E, Kabolis N, Milani D, Pandelia E, Kokotas H, Gasparini P, GiannouliaKarantana A, Renieri A, Zeviani M, Petersen MB. 2008. Cohen syndrome resulting from a novel large intragenic COH1deletion segregating in an isolated Greek island population. Am J Med Genet Part A 146A:2221–2226.

Cohen syndrome, caused by mutations in the COH1gene, is an autosomal recessive disorder consisting of mental retardation, microcephaly, growth delay, severe myopia, progressive chorioretinal dystrophy, facial anomalies, slender limbs with narrow hands and feet, tapered fingers, short stature, kyphosis andor scoliosis, pectus carinatum, joint hypermobility, pes calcaneovalgus, and, variably, truncal obesity. Here, we describe the clinical and molecular findings in 14 patients from an isolated Greek island population. The clinical phenotype was fairly homogeneous, although microcephaly was not constant, and some patients had severe visual disability. All patients were homozygous for a novel intragenic COH1deletion spanning exon 6 to exon 16, suggesting a founder effect. The discovery of this mutation has made carrier detection and prenatal diagnosis possible in this population. © 2008 WileyLiss, Inc.