Open AccessHaploinsufficiency of BCL 11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome
Author(s) -
Shimbo Hiroko,
Yokoi Takayuki,
Aida Noriko,
Mizuno Seiji,
Suzumura Hiroshi,
Nagai Junichi,
Ida Kazumi,
Enomoto Yumi,
Hatano Chihiro,
Kurosawa Kenji
Publication year - 2017
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.289
Subject(s) - haploinsufficiency , microcephaly , pons , cerebellum , comparative genomic hybridization , speech delay , microdeletion syndrome , genetics , copy number variation , hypoplasia , medicine , biology , pathology , chromosome , neuroscience , gene , phenotype , genome
Background Chromosome 2p15p16.1 deletion syndrome is a rare genetic disorder characterized by intellectual disability ( ID ), neurodevelopmental delay, language delay, growth retardation, microcephaly, structural brain abnormalities, and dysmorphic features. More than 30 patients with 2p15p16.1 microdeletion syndrome have been reported in the literature. Methods Molecular analysis was performed using microarray‐based comparative genomic hybridization (array CGH ). Clinical characteristics and brain magnetic resonance imaging features of these patients were also reviewed. Results We identified four patients with ID , neurodevelopmental delay, brain malformations, and dysmorphic features; two patients with 2p15p16.1 deletions (3.24 Mb, 5.04 Mb), one patient with 2p16.1 deletion (1.12 Mb), and one patient with 2p14p16.1 deletion (5.12 Mb). Three patients with 2p15p16.1 deletions or 2p16.1 deletions encompassing BCL 11A , PAPOLG , and REL showed hypoplasia of the pons and cerebellum. The patient with 2p14p16.1 deletion, which did not include three genes showed normal size and shape of the cerebellar hemispheres and pons. Conclusion The zinc finger transcription factor BCL 11A associated with the BAF chromatin remodeling complex has been identified to be critical for neural development and BCL 11A haploinsufficiency is closely related to cerebellar abnormalities.