Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome

Molecular Syndromology

A. Morgan¹  E. Athanasakis¹  P. Gasparini¹  M. Mocenigo¹  A. Fabretto¹  F. Faletra¹ 

[1] aInstitute for Maternal and Child Health, IRCCS ‘Burlo Garofolo’, Italy

关键词: COH1;    Cohen syndrome;    Mutation;    Splicing;   

DOI  :  10.1159/000338816

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

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.

【 授权许可】

Unknown