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 "premature stop codon" symptom

aromatase deficiency

cadasil

classical phenylketonuria

cohen syndrome

cystinuria

dystrophic epidermolysis bullosa

erythropoietic protoporphyria

familial hypocalciuric hypercalcemia

junctional epidermolysis bullosa

kindler syndrome

lamellar ichthyosis

omenn syndrome

triple a syndrome

x-linked adrenoleukodystrophy

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