TY - JOUR
TI - Cohen syndrome resulting from a novel large intragenic COH1 deletion
segregating in an isolated Greek island population
AU - Bugiani, Marianna
AU - Gyftodimou, Yolanda
AU - Tsimpouka, Paraskevi and
AU - Lamantea, Eleonora
AU - Katzaki, Eleni
AU - d'Adamo, Pio
AU - Nakou, Sheena
AU - and Georgoudi, Nelli
AU - Grigoriadou, Maria
AU - Tsina, Efthymia and
AU - Kabolis, Nikolaos
AU - Milani, Donatella
AU - Pandelia, Efthimia and
AU - Kokotas, Haris
AU - Gasparini, Paolo
AU - Giannoulia-Karantana, Aglaia and
AU - Renieri, Alessandra
AU - Zeviani, Massimo
AU - Petersen, Michael B.
JO - American Journal of Medical Genetics. Part A
PY - 2008
VL - 146A
TODO - 17
SP - 2221-2226
PB - Wiley
SN - 1552-4825, 1552-4833
TODO - 10.1002/ajmg.a.32239
TODO - autosomal recessive inheritance; homozygosity; founder effect;
microcephaly; myopia; chorioretinal dystrophy; slender limbs; narrow
hands and feet; tapered fingers; short stature
TODO - 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.
ER -