WP5222 - 2q13 copy number variation syndrome - Homo sapiens

The 2q13 copy number variation syndrome can result in the loss of up to 25 protein-coding genes. Patients with 2q13 deletions and duplications had abnormal head size and dysmorphic features (DOI: 10.1002/ajmg.a.37269). 2q13 duplications also caused developmental delay. The abnormal head size in 2q13 could be explained by the changes in FBLN7 gene (DOI: 10.1002/ajmg.a.37269). At the same time, neuropsychiatric impairment in 2q13 may be associated with BCL2L11, ANAPC1, SLC1A1 and MERTK alterations (DOI: 10.1002/ajmg.b.32236).