2016
DOI: 10.1136/bmjopen-2015-009537
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HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

Abstract: BackgroundX 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.Methods2 NGS approaches were employed to identify mutations in X linked genes in families with XLID disorders. 1 involved exo… Show more

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Cited by 40 publications
(54 citation statements)
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“…At present, 7 different missense mutations in HUWE1 are associated with intellectual disability, and several mutations affect residues conserved in C. elegans EEL-1 (Friez et al, 2016; Froyen et al, 2008). Two of these mutations are shown in Figure 1A.…”
Section: Resultsmentioning
confidence: 99%
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“…At present, 7 different missense mutations in HUWE1 are associated with intellectual disability, and several mutations affect residues conserved in C. elegans EEL-1 (Friez et al, 2016; Froyen et al, 2008). Two of these mutations are shown in Figure 1A.…”
Section: Resultsmentioning
confidence: 99%
“…Increased copies of HUWE1 are associated with non-syndromic intellectual disability (Friez et al, 2016 #922; Froyen et al, 2012; Froyen et al, 2008; Madrigal et al, 2007). Missense mutations in HUWE1 occur in multiple families with intellectual disability, including families with Juberg-Marsidi-Brooks syndrome (Friez et al, 2016; Froyen et al, 2008; Isrie et al, 2013). This suggests both increased and decreased HUWE1 function could be associated with intellectual disability, but evidence from an in vivo model system supporting or refuting this possibility remains absent.…”
Section: Introductionmentioning
confidence: 99%
“…18 To date, there is no evidence of HS6ST2 involvement in Mendelian diseases. [19][20][21][22] ID, speech delay, and severe myopia in a context of mild dysmorphia were the specific key features supporting the similarity. Moreover, the three BWB patients described by Morava et al 21 presented with increased blood lactate values in infancy, similar to the affected twins.…”
Section: Discussionmentioning
confidence: 65%
“…Despite this, WES analysis excluded the presence of pathogenic variants of the HUWE1 gene, which was identified by Friez et al as a causal gene for BWB. 22 In addition, there were clinical discrepancies between the affected probands and the BWB patients described in the literature. The boys described by Brooks et al 19 presented with spastic diplegia, optic and cerebellar atrophy, and entropion, which were not noted in our cases; the majority of patients reported by Morava 20,21 exhibited regression, seizures, and corpus callosum hypogenesis that were not present in the patients described in the current study.…”
Section: Discussionmentioning
confidence: 99%
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