A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene

Microdeletions in the 10q26.1 region are related to intellectual disability, growth delay, microcephaly, distinctive craniofacial features, cardiac defects, genital abnormalities and inner ear abnormalities. The genes responsible for inner ear abnormalities have been narrowed to fibroblast growth fa...

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Detalles Bibliográficos
Autores principales: Sangu, Noriko, Okamoto, Nobuhiko, Shimojima, Keiko, Ondo, Yumiko, Nishikawa, Masanori, Yamamoto, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4871931/
https://www.ncbi.nlm.nih.gov/pubmed/27274859
http://dx.doi.org/10.1038/hgv.2016.8
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author Sangu, Noriko
Okamoto, Nobuhiko
Shimojima, Keiko
Ondo, Yumiko
Nishikawa, Masanori
Yamamoto, Toshiyuki
author_facet Sangu, Noriko
Okamoto, Nobuhiko
Shimojima, Keiko
Ondo, Yumiko
Nishikawa, Masanori
Yamamoto, Toshiyuki
author_sort Sangu, Noriko
collection PubMed
description Microdeletions in the 10q26.1 region are related to intellectual disability, growth delay, microcephaly, distinctive craniofacial features, cardiac defects, genital abnormalities and inner ear abnormalities. The genes responsible for inner ear abnormalities have been narrowed to fibroblast growth factor receptor 2 gene (FGFR2), H6 family homeobox 2 gene (HMX2) and H6 family homeobox 3 gene (HMX3). An additional patient with distinctive craniofacial features, congenital deafness and balance dysfunctions showed a de novo microdeletion of 10q26.11q26.13, indicating the existence of a gene responsible for inner ear abnormalities in this region.
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spelling pubmed-48719312016-06-03 A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene Sangu, Noriko Okamoto, Nobuhiko Shimojima, Keiko Ondo, Yumiko Nishikawa, Masanori Yamamoto, Toshiyuki Hum Genome Var Data Report Microdeletions in the 10q26.1 region are related to intellectual disability, growth delay, microcephaly, distinctive craniofacial features, cardiac defects, genital abnormalities and inner ear abnormalities. The genes responsible for inner ear abnormalities have been narrowed to fibroblast growth factor receptor 2 gene (FGFR2), H6 family homeobox 2 gene (HMX2) and H6 family homeobox 3 gene (HMX3). An additional patient with distinctive craniofacial features, congenital deafness and balance dysfunctions showed a de novo microdeletion of 10q26.11q26.13, indicating the existence of a gene responsible for inner ear abnormalities in this region. Nature Publishing Group 2016-05-19 /pmc/articles/PMC4871931/ /pubmed/27274859 http://dx.doi.org/10.1038/hgv.2016.8 Text en Copyright © 2016 Official journal of the Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-sa/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/
spellingShingle Data Report
Sangu, Noriko
Okamoto, Nobuhiko
Shimojima, Keiko
Ondo, Yumiko
Nishikawa, Masanori
Yamamoto, Toshiyuki
A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene
title A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene
title_full A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene
title_fullStr A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene
title_full_unstemmed A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene
title_short A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene
title_sort de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4871931/
https://www.ncbi.nlm.nih.gov/pubmed/27274859
http://dx.doi.org/10.1038/hgv.2016.8
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