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

TitleCohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.
Publication TypeJournal Article
Year of Publication2008
AuthorsBugiani, M, Gyftodimou, Y, Tsimpouka, P, Lamantea, E, Katzaki, E, D'Adamo, P, Nakou, S, Georgoudi, N, Grigoriadou, M, Tsina, E, Kabolis, N, Milani, D, Pandelia, E, Kokotas, H, Gasparini, P, Giannoulia-Karantana, A, Renieri, A, Zeviani, M, Petersen, MB
JournalAm J Med Genet A
Volume146A
Issue17
Pagination2221-6
Date Published2008 Sep 01
ISSN1552-4833
KeywordsAbnormalities, Multiple, Adolescent, Adult, Child, Cohort Studies, Consanguinity, Developmental Disabilities, DNA Mutational Analysis, Face, Female, Gene Deletion, Geography, Greece, Humans, Intellectual Disability, Male, Microcephaly, Middle Aged, Myopia, Pedigree, Syndrome, Vesicular Transport Proteins
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.

DOI10.1002/ajmg.a.32239
Alternate JournalAm. J. Med. Genet. A
Citation Key10.1002/ajmg.a.32239
PubMed ID18655112