Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.
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.
Bugiani
Marianna
M
Division of Molecular Neurogenetics, IRCCS Neurological Institute "C. Besta", Milano, Italy.
Gyftodimou
Yolanda
Y
Tsimpouka
Paraskevi
P
Lamantea
Eleonora
E
Katzaki
Eleni
E
d'Adamo
Pio
P
Nakou
Sheena
S
Georgoudi
Nelli
N
Grigoriadou
Maria
M
Tsina
Efthymia
E
Kabolis
Nikolaos
N
Milani
Donatella
D
Pandelia
Efthimia
E
Kokotas
Haris
H
Gasparini
Paolo
P
Giannoulia-Karantana
Aglaia
A
Renieri
Alessandra
A
Zeviani
Massimo
M
Petersen
Michael B
MB
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*
C475722:VPS13B protein, human; D033921:Vesicular Transport Proteins