American journal of medical genetics. Part A · 2008
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Bugiani Marianna, Gyftodimou Yolanda, Tsimpouka Paraskevi, Lamantea Eleonora, Katzaki Eleni, d'Adamo 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, Petersen Michael B
Аннотация
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.