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

Marianna Bugiani, 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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)2221-2226
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number17
DOIs
Publication statusPublished - Sep 1 2008

Keywords

  • Autosomal recessive inheritance
  • Chorioretinal dystrophy
  • Founder effect
  • Homozygosity
  • Microcephaly
  • Myopia
  • Narrow hands and feet
  • Short stature
  • Slender limbs
  • Tapered fingers

ASJC Scopus subject areas

  • Genetics(clinical)

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