Cohen syndrome

Definition:

Cohen syndrome is an autosomal recessive disorder with a broad phenotypic spectrum. Essential symptoms include mental retardation, progressive postnatal microcephaly, typical facial anomalies, ophthalmologic findings such as chorioretinal dystrophy and myopia, and granulocytopenia. Obesity and growth delay could be observed. In most patients, Cohen syndrome is caused by loss-of-function mutations in the COH1 gene.

References:

[1]. Marianna Bugiani, et al. Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. Am J Med Genet A. 2008 Sep 1;146A(17):2221-6. [Content Brief]

[2]. Veronica Parri, et al. High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. Eur J Hum Genet. 2010 Oct;18(10):1133-40. [Content Brief]

[3]. Wenke Seifert, et al. Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity. J Biol Chem. 2011 Oct 28;286(43):37665-75. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.