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Article

Prenatal exclusion of Ehlers-Danlos syndrome type VI by mutational analysis.

Proceedings of the Association of American Physicians - 1 Jan 2000

Yeowell H N, Walker L C

Abstract excerpt

We have performed the first prenatal assessment of clinical phenotype in a family affected by Ehlers-Danlos syndrome type VI (EDS VI), an inherited collagen disorder, by screening the fetal DNA for mutations in the lysyl hydroxylase (LH) gene. We have previously reported that the affected child in this family is compound heterozygous for mutations in the LH gene. One allele has a paternally inherited C1557 to G...

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Identifiers

PMID: 9893157
DOI: 10.1046/j.1525-1381.1999.09112.x

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

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Prenatal exclusion of Ehlers-Danlos syndrome type VI by mutational analysis.PMID 9893157Read ↗

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 ↗

First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling.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 ↗

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 nonsense codon of exon 14 reduces lysyl hydroxylase mRNA and leads to aberrant RNA splicing in a patient with Ehlers-Danlos syndrome type VI.Semantic proximity Read ↗

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

Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.Semantic proximity Read ↗

A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I).Semantic proximity Read ↗

STRATEGIES AND OUTCOMES OF PRENATAL DIAGNOSIS FOR OSTEOGENESIS IMPERFECTA: A REVIEW OF BIOCHEMICAL AND MOLECULAR STUDIES COMPLETED IN 129 PREGNANCIESSemantic 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 diagnosis of X-linked hypohidrotic ectodermal dysplasia by linkage analysis.Semantic proximity Read ↗

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