2q37 copy number variation syndrome (WP5224)
Homo sapiens
The 2q37 copy number variation syndrome can result in the loss of up to 78 protein-coding genes. Patients with 2q37 CNV syndrome had intellectual disability, facial dysmorphism and skeletal and digit malformations (DOI: 10.1186/1755-8794-7-19,DOI: 10.1016/j.gene.2013.06.056). Research linked changes in HDAC4 gene with obesity of 2q37 patients (DOI: 10.1016/j.gene.2013.06.056). The chromosomal locations are from Kirov et al. 2014 (literature cited there) (chr2:239,716,679-243,199,373) and the larger one from Sakai et al. 2014 (chr2:234,275,216-243,199,373).
Authors
Daria Shumkova , Friederike Ehrhart , Egon Willighagen , and Eric WeitzActivity
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Organisms
Homo sapiensCommunities
Rare DiseasesAnnotations
Pathway Ontology
disease pathwayDisease Ontology
chromosomal deletion syndrome chromosomal duplication syndrome chromosome 2q37 deletion syndrome disease of mental healthReferences
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