@article{3139743,
    title = "Cohen syndrome resulting from a novel large intragenic COH1 deletion
segregating in an isolated Greek island population",
    author = "Bugiani, Marianna and Gyftodimou, Yolanda and Tsimpouka, Paraskevi and and Lamantea, Eleonora and Katzaki, Eleni and d'Adamo, Pio and Nakou, Sheena and and Georgoudi, Nelli and Grigoriadou, Maria and Tsina, Efthymia and and Kabolis, Nikolaos and Milani, Donatella and Pandelia, Efthimia and and Kokotas, Haris and Gasparini, Paolo and Giannoulia-Karantana, Aglaia and and Renieri, Alessandra and Zeviani, Massimo and Petersen, Michael B.",
    journal = "American Journal of Medical Genetics. Part A",
    year = "2008",
    volume = "146A",
    number = "17",
    pages = "2221-2226",
    publisher = "Wiley",
    issn = "1552-4825, 1552-4833",
    doi = "10.1002/ajmg.a.32239",
    keywords = "autosomal recessive inheritance; homozygosity; founder effect;
microcephaly; myopia; chorioretinal dystrophy; slender limbs; narrow
hands and feet; tapered fingers; short stature",
    abstract = "Cohen syndrome, caused by mutations in the COH1 gene, 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 and/or 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 COH1 deletion spanning exon 6 to exon 16, Suggesting a
founder effect. The discovers, of this Mutation has made carrier
detection and prenatal diagnosis possible ill this population. (C) 2008
Wiley-Liss, Inc."
}