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

J Hyland¹, L Ala-Kokko, P Royce

¹Collagen Research Unit, University of Oulu, Finland.

Nature Genetics

|November 1, 1992

Summary

This summary is machine-generated.

Ehlers-Danlos syndrome (EDS) type VI is caused by a specific mutation in the lysyl hydroxylase gene. This genetic defect leads to a severe deficiency in enzyme activity, impacting collagen metabolism and connective tissues.

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Area of Science:

Biochemistry
Genetics
Molecular Biology

Background:

Ehlers-Danlos syndrome (EDS) encompasses a group of inherited connective tissue disorders.
EDS type VI is characterized by joint hypermobility, skin abnormalities, and impaired collagen processing.
A deficiency in lysyl hydroxylase activity was previously identified as the cause of EDS type VI.

Observation:

A specific homozygous single basepair substitution (CGA to TGA) was identified in two siblings with EDS type VI.
This mutation affects codon 319, changing Arginine to a premature termination codon.
The affected siblings' parents, who are consanguineous, and some healthy siblings are heterozygous for the mutation.

Findings:

The identified mutation results in an almost complete absence of lysyl hydroxylase activity in patient fibroblast extracts.
This molecular defect directly explains the biochemical phenotype observed in EDS type VI.
The genetic findings provide a precise molecular basis for the disease in the affected family.

Implications:

This study elucidates the specific genetic cause of Ehlers-Danlos syndrome type VI in this family.
Understanding the molecular mechanism can aid in genetic counseling and potentially inform future therapeutic strategies.
The findings contribute to the broader understanding of collagen biosynthesis defects and their clinical manifestations.