TY - JOUR
T1 - 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
AU - Lamantea, Eleonora
AU - Katzaki, Eleni
AU - D'Adamo, Pio
AU - Nakou, Sheena
AU - Georgoudi, Nelli
AU - Grigoriadou, Maria
AU - Tsina, Efthymia
AU - Kabolis, Nikolaos
AU - Milani, Donatella
AU - Pandelia, Efthimia
AU - Kokotas, Haris
AU - Gasparini, Paolo
AU - Giannoulia-Karantana, Aglaia
AU - Renieri, Alessandra
AU - Zeviani, Massimo
AU - Petersen, Michael B.
PY - 2008/9/1
Y1 - 2008/9/1
N2 - 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.
AB - 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.
KW - Autosomal recessive inheritance
KW - Chorioretinal dystrophy
KW - Founder effect
KW - Homozygosity
KW - Microcephaly
KW - Myopia
KW - Narrow hands and feet
KW - Short stature
KW - Slender limbs
KW - Tapered fingers
UR - http://www.scopus.com/inward/record.url?scp=51449102096&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=51449102096&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.32239
DO - 10.1002/ajmg.a.32239
M3 - Article
C2 - 18655112
AN - SCOPUS:51449102096
VL - 146
SP - 2221
EP - 2226
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 17
ER -