A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI.
Nat Genet
; 2(3): 228-31, 1992 Nov.
Article
em En
| MEDLINE
| ID: mdl-1345174
ABSTRACT
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 TGA termination codon in two siblings with EDS type VI. The healthy parents, who are first cousins, and two of the three healthy siblings of the patients are heterozygous. The mutation leads to an almost complete absence of lysyl hydroxylase activity in extracts derived from fibroblasts of the patients.
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Base de dados:
MEDLINE
Assunto principal:
Pró-Colágeno-Lisina 2-Oxoglutarato 5-Dioxigenase
/
Mutação Puntual
/
Síndrome de Ehlers-Danlos
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
/
Child
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
1992
Tipo de documento:
Article