Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/100166
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Type: | Journal article |
Title: | HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study |
Author: | Friez, M. Brooks, S. Stevenson, R. Field, M. Basehore, M. Adès, L. Sebold, C. Mcgee, S. Saxon, S. Skinner, C. Craig, M. Murray, L. Simensen, R. Yap, Y. Shaw, M. Gardner, A. Corbett, M. Kumar, R. Bosshard, M. Van Loon, B. et al. |
Citation: | BMJ Open, 2016; 6(4):e009537-1-e009537-9 |
Publisher: | BMJ Publishing Group |
Issue Date: | 2016 |
ISSN: | 2044-6055 2044-6055 |
Statement of Responsibility: | Michael J Friez, Susan Sklower Brooks, Roger E Stevenson, Michael Field, Monica J Basehore, Lesley C Adès, Courtney Sebold, Stephen McGee, Samantha Saxon, Cindy Skinner, Maria E Craig, Lucy Murray, Richard J Simensen, Ying Yzu Yap, Marie A Shaw, Alison Gardner, Mark Corbett, Raman Kumar, Matthias Bosshard, Barbara van Loon, Patrick S Tarpey, Fatima Abidi, Jozef Gecz, Charles E Schwartz |
Abstract: | Background: X linked intellectual disability (XLID) syndromes account for a substantial number of males with ID. Much progress has been made in identifying the genetic cause in many of the syndromes described 20-40 years ago. Next generation sequencing (NGS) has contributed to the rapid discovery of XLID genes and identifying novel mutations in known XLID genes for many of these syndromes. Methods: 2 NGS approaches were employed to identify mutations in X linked genes in families with XLID disorders. 1 involved exome sequencing of genes on the X chromosome using the Agilent SureSelect Human X Chromosome Kit. The second approach was to conduct targeted NGS sequencing of 90 known XLID genes. Results: We identified the same mutation, a c.12928 G>C transversion in the HUWE1 gene, which gives rise to a p.G4310R missense mutation in 2 XLID disorders: Juberg-Marsidi syndrome (JMS) and Brooks syndrome. Although the original families with these disorders were considered separate entities, they indeed overlap clinically. A third family was also found to have a novel HUWE1 mutation. Conclusions: As we identified a HUWE1 mutation in an affected male from the original family reported by Juberg and Marsidi, it is evident the syndrome does not result from a mutation in ATRX as reported in the literature. Additionally, our data indicate that JMS and Brooks syndromes are allelic having the same HUWE1 mutation. |
Keywords: | Chromosomes, Human, X Humans Muscle Spasticity Deafness Mental Retardation, X-Linked Genetic Diseases, X-Linked Hypogonadism Facies Growth Disorders Ubiquitin-Protein Ligases Tumor Suppressor Proteins Mutation Adolescent Adult Middle Aged Child Male Young Adult High-Throughput Nucleotide Sequencing Intellectual Disability Exome Megalencephaly |
Rights: | This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ |
DOI: | 10.1136/bmjopen-2015-009537 |
Grant ID: | http://purl.org/au-research/grants/nhmrc/628952 http://purl.org/au-research/grants/nhmrc/1041920 http://purl.org/au-research/grants/nhmrc/1008077 |
Published version: | http://dx.doi.org/10.1136/bmjopen-2015-009537 |
Appears in Collections: | Aurora harvest 7 Paediatrics publications |
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hdl_100166.pdf | Published Version | 1.37 MB | Adobe PDF | View/Open |
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