Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/100166
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dc.contributor.author | Friez, M. | - |
dc.contributor.author | Brooks, S. | - |
dc.contributor.author | Stevenson, R. | - |
dc.contributor.author | Field, M. | - |
dc.contributor.author | Basehore, M. | - |
dc.contributor.author | Adès, L. | - |
dc.contributor.author | Sebold, C. | - |
dc.contributor.author | Mcgee, S. | - |
dc.contributor.author | Saxon, S. | - |
dc.contributor.author | Skinner, C. | - |
dc.contributor.author | Craig, M. | - |
dc.contributor.author | Murray, L. | - |
dc.contributor.author | Simensen, R. | - |
dc.contributor.author | Yap, Y. | - |
dc.contributor.author | Shaw, M. | - |
dc.contributor.author | Gardner, A. | - |
dc.contributor.author | Corbett, M. | - |
dc.contributor.author | Kumar, R. | - |
dc.contributor.author | Bosshard, M. | - |
dc.contributor.author | Van Loon, B. | - |
dc.contributor.author | et al. | - |
dc.date.issued | 2016 | - |
dc.identifier.citation | BMJ Open, 2016; 6(4):e009537-1-e009537-9 | - |
dc.identifier.issn | 2044-6055 | - |
dc.identifier.issn | 2044-6055 | - |
dc.identifier.uri | http://hdl.handle.net/2440/100166 | - |
dc.description.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. | - |
dc.description.statementofresponsibility | 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 | - |
dc.language.iso | en | - |
dc.publisher | BMJ Publishing Group | - |
dc.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/ | - |
dc.source.uri | http://dx.doi.org/10.1136/bmjopen-2015-009537 | - |
dc.subject | Chromosomes, Human, X | - |
dc.subject | Humans | - |
dc.subject | Muscle Spasticity | - |
dc.subject | Deafness | - |
dc.subject | Mental Retardation, X-Linked | - |
dc.subject | Genetic Diseases, X-Linked | - |
dc.subject | Hypogonadism | - |
dc.subject | Facies | - |
dc.subject | Growth Disorders | - |
dc.subject | Ubiquitin-Protein Ligases | - |
dc.subject | Tumor Suppressor Proteins | - |
dc.subject | Mutation | - |
dc.subject | Adolescent | - |
dc.subject | Adult | - |
dc.subject | Middle Aged | - |
dc.subject | Child | - |
dc.subject | Male | - |
dc.subject | Young Adult | - |
dc.subject | High-Throughput Nucleotide Sequencing | - |
dc.subject | Intellectual Disability | - |
dc.subject | Exome | - |
dc.subject | Megalencephaly | - |
dc.title | HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1136/bmjopen-2015-009537 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/628952 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/1041920 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/1008077 | - |
pubs.publication-status | Published | - |
dc.identifier.orcid | Shaw, M. [0000-0002-5060-190X] | - |
dc.identifier.orcid | Gardner, A. [0009-0009-7321-1697] | - |
dc.identifier.orcid | Corbett, M. [0000-0001-9298-3072] | - |
dc.identifier.orcid | Kumar, R. [0000-0001-7976-8386] | - |
dc.identifier.orcid | Gecz, J. [0000-0002-7884-6861] | - |
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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