ArticleEuropean journal of human genetics : EJHG2014
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 39 citations in OpenAlex.
- The Multi-System Roles of Dp71 Dystrophin Isoforms in Duchenne Muscular Dystrophy.Muscles (Basel, Switzerland) · 2026Review
- Mutation of leucine 170 alters the subcellular distribution, neurite outgrowth and three-dimensional structure of dystrophins Dp71 and Dp40.Molecular biology reports · 2026Article
- Article
- Nuclear Small Dystrophin Isoforms during Muscle Differentiation.Life (Basel, Switzerland) · 2023Article
- Dystrophin genetic variants and autism.Discover mental health · 2022Article
- Overexpression of the dystrophins Dp40 and Dp40Scientific reports · 2022Article
- Computational cognitive modeling and validation of Dp140 induced alteration of working memory in Duchenne Muscular Dystrophy.Scientific reports · 2020Article
- Towards Central Nervous System Involvement in Adults with Hereditary Myopathies.Journal of neuromuscular diseases · 2020Review
- Essential role for InSyn1 in dystroglycan complex integrity and cognitive behaviors in mice.eLife · 2019Article
- Neurocognitive Impairment in mdx Mice.Molecular neurobiology · 2019Article
- Dp71-Dystrophin Deficiency Alters Prefrontal Cortex Excitation-Inhibition Balance and Executive Functions.Molecular neurobiology · 2019Article
- Dysfunction of 67-kDa Laminin Receptor Disrupts BBB Integrity via Impaired Dystrophin/AQP4 Complex and p38 MAPK/VEGF Activation Following Status Epilepticus.Frontiers in cellular neuroscience · 2019Article
- HEK293 cells express dystrophin Dp71 with nucleus-specific localization of Dp71ab.Histochemistry and cell biology · 2016Article
- Cognitive dysfunction in Duchenne muscular dystrophy: a possible role for neuromodulatory immune molecules.Journal of neurophysiology · 2016Review
- Dystrophin hydrophobic regions in the pathogenesis of Duchenne and Becker muscular dystrophies.Bosnian journal of basic medical sciences · 2015Article
- Altered social behavior and ultrasonic communication in the dystrophin-deficient mdx mouse model of Duchenne muscular dystrophy.Molecular autism · 2015Article
- Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.Journal of medical genetics · 2014Article
- The clinical significance of small copy number variants in neurodevelopmental disorders.Journal of medical genetics · 2014Article
- Conserved regions of the DMD 3' UTR regulate translation and mRNA abundance in cultured myotubes.Neuromuscular disorders : NMD · 2014Article
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Authors and funding
19 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have identified a deletion of 3 base pairs in the dystrophin gene (DMD), c.9711_9713del, in a family with nonspecific X-linked intellectual disability (ID) by sequencing of the exons of 86 known X-linked ID genes. This in-frame deletion results in the deletion of a single-amino-acid residue, Leu3238, in the brain-specific isoform Dp71 of dystrophin. Linkage analysis supported causality as the mutation was present in the 7.6 cM linkage interval on Xp22.11-Xp21.1 with a maximum positive LOD score of 2.41 (MRX85 locus). Molecular modeling predicts that the p.(Leu3238del) deletion results in the destabilization of the C-terminal domain of dystrophin and hence reduces the ability to interact with β-dystroglycan. Correspondingly, Dp71 protein levels in lymphoblastoid cells from the index patient are 6.7-fold lower than those in control cell lines (P=0.08). Subsequent determination of the creatine kinase levels in blood of the index patient showed a mild but significant elevation in serum creatine kinase, which is in line with impaired dystrophin function. In conclusion, we have identified the first DMD mutation in Dp71 that results in ID without muscular dystrophy.
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