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Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome
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 micro...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511803/ https://www.ncbi.nlm.nih.gov/pubmed/28717667 http://dx.doi.org/10.1002/mgg3.289 |
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author | Shimbo, Hiroko Yokoi, Takayuki Aida, Noriko Mizuno, Seiji Suzumura, Hiroshi Nagai, Junichi Ida, Kazumi Enomoto, Yumi Hatano, Chihiro Kurosawa, Kenji |
author_facet | Shimbo, Hiroko Yokoi, Takayuki Aida, Noriko Mizuno, Seiji Suzumura, Hiroshi Nagai, Junichi Ida, Kazumi Enomoto, Yumi Hatano, Chihiro Kurosawa, Kenji |
author_sort | Shimbo, Hiroko |
collection | PubMed |
description | 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 BCL11A,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 BCL11A associated with the BAF chromatin remodeling complex has been identified to be critical for neural development and BCL11A haploinsufficiency is closely related to cerebellar abnormalities. |
format | Online Article Text |
id | pubmed-5511803 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-55118032017-07-17 Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome Shimbo, Hiroko Yokoi, Takayuki Aida, Noriko Mizuno, Seiji Suzumura, Hiroshi Nagai, Junichi Ida, Kazumi Enomoto, Yumi Hatano, Chihiro Kurosawa, Kenji Mol Genet Genomic Med Clinical Reports 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 BCL11A,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 BCL11A associated with the BAF chromatin remodeling complex has been identified to be critical for neural development and BCL11A haploinsufficiency is closely related to cerebellar abnormalities. John Wiley and Sons Inc. 2017-05-22 /pmc/articles/PMC5511803/ /pubmed/28717667 http://dx.doi.org/10.1002/mgg3.289 Text en © 2017 Kanagawa Children's Medical Center. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Clinical Reports Shimbo, Hiroko Yokoi, Takayuki Aida, Noriko Mizuno, Seiji Suzumura, Hiroshi Nagai, Junichi Ida, Kazumi Enomoto, Yumi Hatano, Chihiro Kurosawa, Kenji Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome |
title | Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome |
title_full | Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome |
title_fullStr | Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome |
title_full_unstemmed | Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome |
title_short | Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome |
title_sort | haploinsufficiency of bcl11a associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome |
topic | Clinical Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511803/ https://www.ncbi.nlm.nih.gov/pubmed/28717667 http://dx.doi.org/10.1002/mgg3.289 |
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