Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

[cohen syndrome]

Cohen syndrome is an autosomal recessive condition associated with developmental delay , facial dysmorphism , pigmentary retinopathy , and neutropenia . The pleiotropic phenotype , combined with insufficient clinical data , often leads to an erroneous diagnosis and has led to confusion in the literature . Here , we report the results of a comprehensive genotype-phenotype study on the largest cohort of patients with Cohen syndrome assembled to date . We found 22 different COH 1 mutations , of which 19 are novel , in probands identified by our diagnostic criteria . In addition , we identified another three novel mutations in patients with incomplete clinical data . By contrast , no COH 1 mutations were found in patients with a provisional diagnosis of Cohen syndrome who did not fulfill the diagnostic criteria ("Cohen-like " syndrome ). This study provides a molecular confirmation of the clinical phenotype associated with Cohen syndrome and provides a basis for laboratory screening that will be valuable in its diagnosis .

Diseases
Validation

Diseases presenting "developmental delay" symptom

22q11.2 deletion syndrome

achondroplasia

alexander disease

alpha-thalassemia

aniridia

canavan disease

child syndrome

classical phenylketonuria

coats disease

cohen syndrome

congenital diaphragmatic hernia

congenital toxoplasmosis

cowden syndrome

gm1 gangliosidosis

harlequin ichthyosis

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

kabuki syndrome

kallmann syndrome

krabbe disease

lamellar ichthyosis

monosomy 21

neonatal adrenoleukodystrophy

phenylketonuria

primary hyperoxaluria type 1

proteus syndrome

pyruvate dehydrogenase deficiency

sneddon syndrome

triple a syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated