Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation.

Détails

ID Serval
serval:BIB_915215843AC8
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation.
Périodique
Clinical Genetics
Auteur(s)
Mackay K., Raghunath M., Superti-Furga A., Steinmann B., Dalgleish R.
ISSN
0009-9163 (Print)
ISSN-L
0009-9163
Statut éditorial
Publié
Date de publication
1996
Volume
49
Numéro
6
Pages
286-295
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
Résumé
Three patients with Ehlers-Danlos syndrome type IV (EDS IV) and biochemical evidence of structural defects in collagen III were investigated for mutations within the collagen III gene (COL3A1). Single strand conformation polymorphism analysis of alpha 1 (III) cDNA indicated the presence of different heterozygous sequence changes in each of the patients. Nucleotide sequencing revealed mutations leading to the substitution of glycine 400 with glutamic acid, glycine 595 with cysteine, and glycine 1003 with aspartic acid. EDS IV is a life-threatening disorder which, as the clinical histories of our patients and their families show, still often escapes diagnosis. Biochemical and molecular studies can clarify the diagnosis and help provide appropriate management and counselling.
Mots-clé
Adult, Amino Acids/genetics, Cells, Cultured, Collagen/genetics, Collagen/metabolism, DNA, Complementary, Ehlers-Danlos Syndrome/genetics, Ehlers-Danlos Syndrome/metabolism, Female, Humans, Infant, Newborn, Polymorphism, Single-Stranded Conformational, Sequence Analysis, DNA
Pubmed
Web of science
Création de la notice
14/03/2011 17:14
Dernière modification de la notice
03/03/2018 19:28
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