High-resolution genomic microarrays for X-linked mental retardation

Lugtenberg, Dorien; Veltman, Joris A.; Bokhoven, Hans van

doi:10.1097/gim.0b013e318149e647

Cited by 20 publications

(16 citation statements)

References 56 publications

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“…Our increasing ability to perform high throughput analyses of genotype using microarrays has been a significant contributor to the increased discovery rate of NS-ID genes over the past 10 years (Lugtenberg et al 2007). All of the genes identified for autosomal recessive NS-ID thus far have been identified through microarray technology combined with homozygosity mapping using large consanguineous families.…”

Section: Identifying Genes That Cause Ns-id: Methodology and Obstaclesmentioning

confidence: 99%

The genetic basis of non-syndromic intellectual disability: a review

Kaufman

Ayub

Vincent

2010

J Neurodevelop Disord

229

221

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Intellectual disability (ID), also referred to as mental retardation (MR), is frequently the result of genetic mutation. Where ID is present together with additional clinical symptoms or physical anomalies, there is often sufficient information available for the diagnosing physician to identify a known syndrome, which may then educe the identification of the causative defect. However, where co-morbid features are absent, narrowing down a specific gene can only be done by ‘brute force’ using the latest molecular genetic techniques. Here we attempt to provide a systematic review of genetic causes of cases of ID where no other symptoms or co-morbid features are present, or non-syndromic ID. We attempt to summarize commonalities between the genes and the molecular pathways of their encoded proteins. Since ID is a common feature of autism, and conversely autistic features are frequently present in individuals with ID, we also look at possible overlaps in genetic etiology with non-syndromic ID.

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Section: Identifying Genes That Cause Ns-id: Methodology and Obstaclesmentioning

confidence: 99%

The genetic basis of non-syndromic intellectual disability: a review

Kaufman

Ayub

Vincent

2010

J Neurodevelop Disord

229

221

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“…12,19,20 Finally, the growing number of small chromosomal rearrangements (microdeletion, microduplication) involving one or several genes as identified by array-CGH also suggests that copy number changes are important in XLMR. 5,6,21,22 Among the last new genes found mutated in XLMR, the UPF3B gene has been involved in specific and nonspecific MR with or without autism in 4 of 250 tested families. 9 We further analyzed the coding sequence of this gene in the panel of the EuroMRX consortium (372 tested families) as well as in 25 patients diagnosed with Lujan-Fryns, based on the finding of UPF3B mutations in affected individuals of Lujan-Fryns syndrome families.…”

Section: Discussionmentioning

confidence: 99%

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

et al. 2009

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“…3 We have screened a subset of 300 presumable X-linked families by X chromosome-specific array-CGH and identified five families with overlapping microduplications at Xp11. 22. Subsequent screening of additional patients by qPCR identified one more positive family.…”

Section: Introductionmentioning

confidence: 99%

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

Froyen

Corbett

Vandewalle

et al. 2008

The American Journal of Human Genetics

Self Cite

188

179

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Submicroscopic copy-number imbalances contribute significantly to the genetic etiology of human disease. Here, we report a novel microduplication hot spot at Xp11.22 identified in six unrelated families with predominantly nonsyndromic XLMR. All duplications segregate with the disease, including the large families MRX17 and MRX31. The minimal, commonly duplicated region contains three genes: RIBC1, HSD17B10, and HUWE1. RIBC1 could be excluded on the basis of its absence of expression in the brain and because it escapes X inactivation in females. For the other genes, expression array and quantitative PCR analysis in patient cell lines compared to controls showed a significant upregulation of HSD17B10 and HUWE1 as well as several important genes in their molecular pathways. Loss-of-function mutations of HSD17B10 have previously been associated with progressive neurological disease and XLMR. The E3 ubiquitin ligase HUWE1 has been implicated in TP53-associated regulation of the neuronal cell cycle. Here, we also report segregating sequence changes of highly conserved residues in HUWE1 in three XLMR families; these changes are possibly associated with the phenotype. Our findings demonstrate that an increased gene dosage of HSD17B10, HUWE1, or both contribute to the etiology of XLMR and suggest that point mutations in HUWE1 are associated with this disease too.

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High-resolution genomic microarrays for X-linked mental retardation

Cited by 20 publications

References 56 publications

The genetic basis of non-syndromic intellectual disability: a review

The genetic basis of non-syndromic intellectual disability: a review

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

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