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2. Cohen Syndrome Resulting From a Novel Large Intragenic COH1 Deletion Segregating in an Isolated Greek Island Population

Author

Bugiani, Marianna, Gyftodimou, Yolanda, Tsimpouka, Paraskevi, Lamantea, Eleonora, Katzaki, Eleni, dʼAdamo, Pio, Nakou, Sheena, Georgoudi, Nelli, Grigoriadou, Maria, Tsina, Efthymia, Kabolis, Nikolaos, Milani, Donatella, Pandelia, Efthimia, Kokotas, Haris, Gasparini, Paolo, Giannoulia-Karantana, Aglaia, Renieri, Alessandra, Zeviani, Massimo, and Petersen, Michael B.

Published
2008
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3. Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population

Author

Bugiani, Marianna Gyftodimou, Yolanda Tsimpouka, Paraskevi and Lamantea, Eleonora Katzaki, Eleni d'Adamo, Pio Nakou, Sheena and Georgoudi, Nelli Grigoriadou, Maria Tsina, Efthymia and Kabolis, Nikolaos Milani, Donatella Pandelia, Efthimia and Kokotas, Haris Gasparini, Paolo Giannoulia-Karantana, Aglaia and Renieri, Alessandra Zeviani, Massimo Petersen, Michael B.

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.

Published
2008

4. Cohen syndrome resulting from a novel large intragenicCOH1deletion segregating in an isolated Greek island population

Author

Bugiani, Marianna, primary, Gyftodimou, Yolanda, additional, Tsimpouka, Paraskevi, additional, Lamantea, Eleonora, additional, Katzaki, Eleni, additional, d'Adamo, Pio, additional, Nakou, Sheena, additional, Georgoudi, Nelli, additional, Grigoriadou, Maria, additional, Tsina, Efthymia, additional, Kabolis, Nikolaos, additional, Milani, Donatella, additional, Pandelia, Efthimia, additional, Kokotas, Haris, additional, Gasparini, Paolo, additional, Giannoulia-Karantana, Aglaia, additional, Renieri, Alessandra, additional, Zeviani, Massimo, additional, and Petersen, Michael B., additional

Published
2008
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5. 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.

Author

Bugiani, Marianna, Gyftodimou, Yolanda, Tsimpouka, Paraskevi, Lamantea, Eleonora, Katzaki, Eleni, dAdamo, Pio, Nakou, Sheena, Georgoudi, Nelli, Grigoriadou, Maria, Tsina, Efthymia, Kabolis, Nikolaos, Milani, Donatella, Pandelia, Efthimia, Kokotas, Haris, Gasparini, Paolo, GiannouliaKarantana, Aglaia, Renieri, Alessandra, Zeviani, Massimo, and Petersen, Michael B.

Abstract

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.

Published
2008
Full Text
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