Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population

  • Am J Med Genet A. 2008 Sep 1;146A(17):2221-6. doi: 10.1002/ajmg.a.32239.
Marianna Bugiani  1 ,  Yolanda Gyftodimou ,  Paraskevi Tsimpouka ,  Eleonora Lamantea ,  Eleni Katzaki ,  Pio d'Adamo ,  Sheena Nakou ,  Nelli Georgoudi ,  Maria Grigoriadou ,  Efthymia Tsina ,  Nikolaos Kabolis ,  Donatella Milani ,  Efthimia Pandelia ,  Haris Kokotas ,  Paolo Gasparini ,  Aglaia Giannoulia-Karantana ,  Alessandra Renieri ,  Massimo Zeviani ,  Michael B Petersen
Affiliations
  • 1. Division of Molecular Neurogenetics, IRCCS Neurological Institute "C. Besta", Milano, Italy.
PMID: 18655112 DOI: 10.1002/ajmg.a.32239
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 discovery of this mutation has made carrier detection and prenatal diagnosis possible in this population.