ArticleEuropean journal of human genetics : EJHG2015
A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 35 citations in OpenAlex.
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- Presynaptic perspective: Axonal transport defects in neurodevelopmental disorders.The Journal of cell biology · 2024Review
- Antagonistic Interactions in Mitochondria ROS Signaling Responses to Manganese.Antioxidants (Basel, Switzerland) · 2023Article
- Identification of candidate loci for adaptive phenotypic plasticity in natural populations of spadefoot toads.Ecology and evolution · 2020Article
- Distinct genetic variation and heterogeneity of the Iranian population.PLoS genetics · 2019Article
- Spindle pole power in health and disease.Current genetics · 2019Review
- Genetics of intellectual disability in consanguineous families.Molecular psychiatry · 2019Article
- The Role of the Microtubule Cytoskeleton in Neurodevelopmental Disorders.Frontiers in cellular neuroscience · 2018Review
- Potential Role of Microtubule Stabilizing Agents in Neurodevelopmental Disorders.International journal of molecular sciences · 2017Review
- Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.Molecular psychiatry · 2017Article
- Role and mechanism of action of leucine-rich repeat kinase 1 in bone.Bone research · 2017Review
- Microtubule plus-end tracking proteins in neuronal development.Cellular and molecular life sciences : CMLS · 2016Review
Corrections and comments
- Erratum issued
Authors and funding
14 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In the context of a comprehensive research project, investigating novel autosomal recessive intellectual disability (ARID) genes, linkage analysis based on autozygosity mapping helped identify an intellectual disability locus on Chr.12q24, in an Iranian family (LOD score = 3.7). Next-generation sequencing (NGS) following exon enrichment in this novel interval, detected a nonsense mutation (p.Q1010*) in the CLIP1 gene. CLIP1 encodes a member of microtubule (MT) plus-end tracking proteins, which specifically associates with the ends of growing MTs. These proteins regulate MT dynamic behavior and are important for MT-mediated transport over the length of axons and dendrites. As such, CLIP1 may have a role in neuronal development. We studied lymphoblastoid and skin fibroblast cell lines established from healthy and affected patients. RT-PCR and western blot analyses showed the absence of CLIP1 transcript and protein in lymphoblastoid cells derived from affected patients. Furthermore, immunofluorescence analyses showed MT plus-end staining only in fibroblasts containing the wild-type (and not the mutant) CLIP1 protein. Collectively, our data suggest that defects in CLIP1 may lead to ARID.
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