title: Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.
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.
authors.affiliation: Division of Molecular Neurogenetics, IRCCS Neurological Institute "C. Besta", Milano, Italy.
authors.forename: Marianna
authors.initials: M
authors.lastname: Bugiani
authors.forename: Yolanda
authors.initials: Y
authors.lastname: Gyftodimou
authors.forename: Paraskevi
authors.initials: P
authors.lastname: Tsimpouka
authors.forename: Eleonora
authors.initials: E
authors.lastname: Lamantea
authors.forename: Eleni
authors.initials: E
authors.lastname: Katzaki
authors.forename: Pio
authors.initials: P
authors.lastname: d'Adamo
authors.forename: Sheena
authors.initials: S
authors.lastname: Nakou
authors.forename: Nelli
authors.initials: N
authors.lastname: Georgoudi
authors.forename: Maria
authors.initials: M
authors.lastname: Grigoriadou
authors.forename: Efthymia
authors.initials: E
authors.lastname: Tsina
authors.forename: Nikolaos
authors.initials: N
authors.lastname: Kabolis
authors.forename: Donatella
authors.initials: D
authors.lastname: Milani
authors.forename: Efthimia
authors.initials: E
authors.lastname: Pandelia
authors.forename: Haris
authors.initials: H
authors.lastname: Kokotas
authors.forename: Paolo
authors.initials: P
authors.lastname: Gasparini
authors.forename: Aglaia
authors.initials: A
authors.lastname: Giannoulia-Karantana
authors.forename: Alessandra
authors.initials: A
authors.lastname: Renieri
authors.forename: Massimo
authors.initials: M
authors.lastname: Zeviani
authors.forename: Michael B
authors.initials: MB
authors.lastname: Petersen
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D015331:Cohort Studies; D003241:Consanguinity; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D017353:Gene Deletion; D005843:Geography; D006115:Greece; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics; D008875:Middle Aged; D009216:Myopia / Q000235:genetics; D010375:Pedigree; D013577:Syndrome; D033921:Vesicular Transport Proteins / Q000235:genetics*
chemical_list: C475722:VPS13B protein, human; D033921:Vesicular Transport Proteins