Athanasakis E, Fabretto A, Faletra F, Mocenigo M, Morgan A, Gasparini P
Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo', Italy.
Mol Syndromol. 2012 Jun;3(1):30-33. doi: 10.1159/000338816. Epub 2012 May 16.
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.
科恩综合征（CS）是一种由COH1基因突变引起的常染色体隐性疾病。其特征为智力残疾、肌张力减退、关节过度松弛、严重近视、典型的面部畸形，在某些情况下还伴有间歇性孤立性中性粒细胞减少症。我们对一名患有CS的意大利患者及其家人进行了调查。基因分析发现了2种新的突变：第一种是内含子突变（c.8697-9A>G），在其上游8个核苷酸处产生了一个新的剪接位点；第二种是1个碱基的重复（c.10156dupA），产生了一个提前的终止密码子。复合杂合突变解释了先证者的表型，并增进了对基因型-表型相关性的认识。
