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Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population
Author(s) -
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,
GiannouliaKarantana Aglaia,
Renieri Alessandra,
Zeviani Massimo,
Petersen Michael B.
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32239
Subject(s) - short stature , microcephaly , pectus carinatum , genetics , scoliosis , population , medicine , pediatrics , biology , deformity , environmental health
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. © 2008 Wiley‐Liss, Inc.