ArticleJournal of the neurological sciences2012
Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.
Article in Journal of the neurological sciences, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- Epilepsy characteristics in patients with muscle-eye-brain disease: A systematic review of electroclinical features.Epileptic disorders : international epilepsy journal with videotape · 2026Pooled it
- Prenatal Diagnosis and Perinatal Outcomes of Posterior Fossa Anomalies in a Tertiary Referral Center: A Five-Year Experience.Medicina (Kaunas, Lithuania) · 2026Article
- The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.Fluids and barriers of the CNS · 2024Review
- High degree of conservation of the enzymes synthesizing the laminin-binding glycoepitope of α-dystroglycan.Open biology · 2021Article
- Parent-Child Interaction Therapy in a Case of Global Developmental Delay and Leukoencephalopathy.Frontiers in psychiatry · 2018Article
- Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing.Scientific reports · 2017Article
- Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.Human molecular genetics · 2016Article
- Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease.Molecular vision · 2016Article
- The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy.The Journal of biological chemistry · 2013Review
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 2 countries.
Funding
Abstract
Congenital muscular dystrophies due to defects in genes encoding proteins involved in α-dystroglycan (α-DG) glycosylation are a heterogeneous group of muscle disorders variably associated with central nervous system and eye abnormalities. One of the more severe is muscle-eye-brain disease (MEB). Mutations in genes coding for proven or putative glycosyltransferases (POMT1, POMT2, POMGnT1, fukutin, FKRP, and LARGE), the DPM3 gene encoding a DOL-P-Man synthase subunit, and the DAG1 gene encoding α-dystroglycan, have been associated with altered α-DG glycosylation. We report new POMGnT1 mutations and evaluate protein expression in 3 patients and 2 foetuses with variably severe MEB features. We identify two new point mutations (c.643C>T, c.1863delC), one new intragenic rearrangement (deletion of exons 2-8), and a new intron retention (between exons 21 and 22) resulting from a known point mutation c.1895+1G>T. Our study provides further evidence that rearrangements of the POMGnT1 gene are relatively common. Importantly, if heterozygous, they can be missed on standard genomic DNA sequencing. POMGNT1 protein analysis in 3 patients showed that the severity of the phenotype does not correlate with protein expression. Cerebral MRI is important for identifying MEB and α-dystroglycanopathy phenotypes in children and foetuses, and hence for directing the genetic analysis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.