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Article

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

Nature genetics - 1 Nov 1992

Hyland J, Ala-Kokko L, Royce P, Steinmann B, Kivirikko K I, Myllylä R

Abstract excerpt

Ehlers-Danlos syndrome (EDS) is characterized by joint hypermobility, alterations in the skin and additional signs of connective tissue involvement. EDS type VI was the first connective tissue disorder for which a specific defect in collagen metabolism was identified, namely a deficiency of lysyl hydroxylase activity. We now report a homozygous single basepair substitution converting the CGA codon (Arg319) to a...

Topics

Adolescent
Base Sequence
Child
Consanguinity
DNA, Complementary
Ehlers-Danlos Syndrome
Female
Fibroblasts
Genotype
Humans
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Point Mutation

Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase

Sequence Analysis, DNA

Source

Identifiers

PMID: 1345174
DOI: 10.1038/ng1192-228

Genes

CGA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1345174-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Click a neighbor to travelStep 1 · 12 closest

A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI.PMID 1345174Read ↗

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 ↗

A splice-site mutation that induces exon skipping and reduction in lysyl hydroxylase mRNA levels but does not create a nonsense codon in Ehlers-Danlos syndrome type VI.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 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 splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement.Semantic proximity Read ↗

A null-mutated lysyl hydroxylase gene in a compound heterozygote British patient 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 ↗

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

An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.Semantic proximity Read ↗

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 single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.Semantic proximity Read ↗

A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII.Semantic proximity Read ↗

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