ArticleBMC medical genetics2010
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies.
Article in BMC medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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17 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
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- Congenital muscular dystrophy-associated inflammatory chemokines provide axes for effective recruitment of therapeutic adult stem cell into muscles.Stem cell research & therapy · 2020Article
- Deep intronic mutations and human disease.Human genetics · 2017Review
- Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.American journal of human genetics · 2015Article
- Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins.Human mutation · 2013Article
- The expanded collagen VI family: new chains and new questions.Connective tissue research · 2013Review
- Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy.Human gene therapy · 2012Article
- Congenital muscular dystrophies: a brief review.Seminars in pediatric neurology · 2011Review
- ColVI myopathies: where do we stand, where do we go?Skeletal muscle · 2011Article
- The collagen VI-related myopathies: muscle meets its matrix.Nature reviews. Neurology · 2011Review
- Detection of clinically relevant exonic copy-number changes by array CGH.Human mutation · 2010Article
- Association of an intronic, but not any exonic, FRMD4B sequence variant and heart failure.Clinical and translational science · 2010Article
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundMolecular characterization of collagen-VI related myopathies currently relies on standard sequencing, which yields a detection rate approximating 75-79% in Ullrich congenital muscular dystrophy (UCMD) and 60-65% in Bethlem myopathy (BM) patients as PCR-based techniques tend to miss gross genomic rearrangements as well as copy number variations (CNVs) in both the coding sequence and intronic regions.
methodsWe have designed a custom oligonucleotide CGH array in order to investigate the presence of CNVs in the coding and non-coding regions of COL6A1, A2, A3, A5 and A6 genes and a group of genes functionally related to collagen VI. A cohort of 12 patients with UCMD/BM negative at sequencing analysis and 2 subjects carrying a single COL6 mutation whose clinical phenotype was not explicable by inheritance were selected and the occurrence of allelic and genetic heterogeneity explored.
resultsA deletion within intron 1A of the COL6A2 gene, occurring in compound heterozygosity with a small deletion in exon 28, previously detected by routine sequencing, was identified in a BM patient. RNA studies showed monoallelic transcription of the COL6A2 gene, thus elucidating the functional effect of the intronic deletion. No pathogenic mutations were identified in the remaining analyzed patients, either within COL6A genes, or in genes functionally related to collagen VI.
conclusionsOur custom CGH array may represent a useful complementary diagnostic tool, especially in recessive forms of the disease, when only one mutant allele is detected by standard sequencing. The intronic deletion we identified represents the first example of a pure intronic mutation in COL6A genes.
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