Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome.

[cohen syndrome]

Cohen syndrome (CS ) is an autosomal recessive disease caused by mutations in the COH 1 gene . It is characterized by intellectual disability , hypotonia , joint hyperlaxity , severe myopia , characteristic facial dysmorphisms and , in some cases , intermittent isolated neutropenia . We investigated an Italian patient with CS together with his family . Genetic analysis disclosed 2 novel mutations : the first is an intronic mutation (c .8697 -9 A >G ) creating a new splice site 8 nucleotides upstream , and the second is a duplication of 1 base (c .10156 dupA ) generating a premature stop codon . The compound heterozygous mutations explain the proband 's phenotype and improved the knowledge of genotype-phenotype correlation .

Diseases
Validation

Diseases presenting "intellectual disability" symptom

22q11.2 deletion syndrome

alexander disease

alpha-thalassemia

aniridia

child syndrome

cohen syndrome

cowden syndrome

hirschsprung disease

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

monosomy 21

oculocutaneous albinism

oligodontia

phenylketonuria

proteus syndrome

triple a syndrome

wolf-hirschhorn syndrome

This symptom has already been validated