ArticleAmerican journal of human genetics1997
Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 53 citations in OpenAlex.
- Aberrant expression ofInternational journal of ophthalmology · 2023Article
- The dynamic sclera: extracellular matrix remodeling in normal ocular growth and myopia development.Experimental eye research · 2015Review
- Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype.European journal of pediatrics · 2015Article
- Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.Journal of medical genetics · 2007Article
- PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: implications for the pathology of Rieger syndrome.The Journal of cell biology · 2001Article
- Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17.Proceedings of the National Academy of Sciences of the United States of America · 1999Article
- Cloning and characterization of a third human lysyl hydroxylase isoform.Proceedings of the National Academy of Sciences of the United States of America · 1998Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
The type VI variant of the Ehlers-Danlos syndrome (EDS) is a recessively inherited connective tissue disorder which, in most families, is due to a deficiency in lysyl hydroxylase activity. We have recently characterized a homozygous duplication of 8.9 kb in the lysyl hydroxylase gene (PLOD) in two EDS VI families. The duplication is caused by a homologous recombination of Alu sequences in introns 9 and 16. Using PCR, we have analyzed 26 additional EDS VI families from various countries and found that 7 of them have this duplication. Our data has shown a frequency of 19.1% for this mutant allele among 35 EDS VI families studied by us so far. Our haplotype analysis shows a variation in the sequence of DNA region surrounding the duplication. There is an association between a particular allele size class, the long form, at the dinucleotide repeat within intron 16 and the duplication mutation in PLOD. Screening of a general population revealed one positive finding among 582 alleles tested. An abnormal sequence in exon 17 of the gene, which generated a stop codon in the exon sequence and aberrant mRNA processing, was responsible for the nonfunctionality of the other allele in one of the compound heterozygous patients.
Indexed as
Identifiers
8981946PMC1712545W300580931What OpenQuestion holds
Registered trials
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