ArticleEuropean journal of human genetics : EJHG2011
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 24 citations in OpenAlex.
- The missense mutation Y65C in PQBP1 causes microcephaly and cognitive deficits through a combination of partial loss-of-function and gain-of-function effects.Nature communications · 2026Article
- Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.Molecular psychiatry · 2024Article
- Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report.Journal of autism and developmental disorders · 2024Article
- X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene.Molecular genetics & genomic medicine · 2022Article
- PQBP1: The Key to Intellectual Disability, Neurodegenerative Diseases, and Innate Immunity.International journal of molecular sciences · 2022Review
- A rigorousFrontiers in molecular neuroscience · 2022Article
- Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability.BMC medical genomics · 2018Article
- Changes in the folding landscape of the WW domain provide a molecular mechanism for an inherited genetic syndrome.Scientific reports · 2016Article
- Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.The Indian journal of medical research · 2016Article
- Prioritizing genes for X-linked diseases using population exome data.Human molecular genetics · 2015Article
- Development of a high-throughput resequencing array for the detection of pathogenic mutations in osteogenesis imperfecta.PloS one · 2015Article
- The XLID protein PQBP1 and the GTPase Dynamin 2 define a signaling link that orchestrates ciliary morphogenesis in postmitotic neurons.Cell reports · 2013Article
- Article
- Downregulation of the creatine transporter SLC6A8 by JAK2.The Journal of membrane biology · 2012Article
Corrections and comments
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Authors and funding
22 authors at 10 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-linked intellectual disability (XLID), also known as X-linked mental retardation, is a highly genetically heterogeneous condition for which mutations in >90 different genes have been identified. In this study, we used a custom-made sequencing array based on the Affymetrix 50k platform for mutation screening in 17 known XLID genes in patients from 135 families and found eight single-nucleotide changes that were absent in controls. For four mutations affecting ATRX (p.1761M>T), PQBP1 (p.155R>X) and SLC6A8 (p.390P>L and p.477S>L), we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability.
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