A patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome.

Hancarova M, Simandlova M, Drabova J, Mannik K, Kurg A, Sedlacek Z. American Journal of Medical Genetics Part A. 2013 Apr;161A(4):865–70. doi: 10.1002/ajmg.a.35783. Epub 2013 Mar 12. IF: 2.304

Department of Biology and Medical Genetics

The 2p15-p16.1 microdeletion syndrome is a novel, rare disorder characterized by developmental delay, intellectual disability, microcephaly, growth retardation, facial abnormalities, and other medical problems. We report here on an 11-year-old female showing clinical features consistent with the syndrome and carrying a de novo 0.45 Mb long deletion of the paternally derived 2p16.1 allele. The deleted region contains only three protein-coding RefSeq genes, BCL11A, PAPOLG, and REL, and one long non-coding RNA gene FLJ16341. Based on close phenotypic similarities with six reported patients showing typical clinical features of the syndrome, we propose that the critical region can be narrowed down further, and that these brain expressed genes can be considered candidates for the features seen in this microdeletion syndrome.

Created: 1. 9. 2014 / Modified: 22. 6. 2018 / Responsible person: Mgr. Ing. Tereza Kůstková