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

[cohen syndrome]

Cohen syndrome , caused by mutations in the COH 1 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 COH 1 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 .

Diseases
Validation

Diseases presenting "short stature" symptom

22q11.2 deletion syndrome

achondroplasia

alpha-thalassemia

aromatase deficiency

child syndrome

classical phenylketonuria

coats disease

cohen syndrome

congenital adrenal hyperplasia

cowden syndrome

dentin dysplasia

dentinogenesis imperfecta

fabry disease

hirschsprung disease

holt-oram syndrome

kabuki syndrome

kallmann syndrome

kindler syndrome

monosomy 21

oculocutaneous albinism

oligodontia

omenn syndrome

proteus syndrome

werner syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated