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Mol Syndromol. 2012 Jun;3(1):30-33. Epub 2012 May 16.

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

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  • 1Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo', Italy.

Abstract

Cohen syndrome (CS) is an autosomal recessive disease caused by mutations in the COH1 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.8697-9A>G) creating a new splice site 8 nucleotides upstream, and the second is a duplication of 1 base (c.10156dupA) generating a premature stop codon. The compound heterozygous mutations explain the proband's phenotype and improved the knowledge of genotype-phenotype correlation.

PMID:
22855652
[PubMed]
PMCID:
PMC3398820
Free PMC Article

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