Please use this identifier to cite or link to this item: http://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; Hypogonadism; Facies; Growth Disorders; Ubiquitin-Protein Ligases; Mutation; Adolescent; Adult; Middle Aged; Child; Male; Young Adult; High-Throughput Nucleotide Sequencing; Exome
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/
RMID: 0030047055
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
Appears in Collections:Paediatrics publications

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