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Article

A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene.

The Journal of clinical investigation - 1 Apr 1994

Ha V T, Marshall M K, Elsas L J, Pinnell S R, Yeowell H N

Abstract excerpt

In the present study, we have isolated and sequenced the complementary DNAs of two mutant alleles for lysyl hydroxylase (LH) in fibroblasts from one patient (AT750) with Ehlers-Danlos syndrome type VI (EDS VI). We have identified a putative mutation in each allele which may be responsible for the patient's decreased LH (normalized to prolyl hydroxylase) activity (24% of normal). Intermediate levels of LH activity...

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Identifiers

PMID: 8163671
DOI: 10.1172/JCI117155
PMCID: PMC294226

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene.PMID 8163671Read ↗

Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene.Semantic proximity Read ↗

A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene.Semantic proximity Read ↗

A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient.Semantic proximity Read ↗

A null-mutated lysyl hydroxylase gene in a compound heterozygote British patient with Ehlers-Danlos syndrome type VI.Semantic proximity Read ↗

Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI.Semantic proximity Read ↗

Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation.Semantic proximity Read ↗

A Large Duplication in the Gene for Lysyl Hydroxylase Accounts for the Type VI Variant of Ehlers-Danlos Syndrome in Two SiblingsSemantic proximity Read ↗

A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Prenatal exclusion of Ehlers-Danlos syndrome type VI by mutational analysis.Semantic proximity Read ↗

A common duplication in the lysyl hydroxylase gene of patients with Ehlers Danlos syndrome type VI results in preferential stimulation of lysyl hydroxylase activity and mRNA by hydralazine.Semantic proximity Read ↗

An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges.Semantic proximity Read ↗

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