WP5224 - 2q37 copy number variation syndrome - 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 have 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). 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).