Gaucher disease: four families with previously undescribed mutations.

Détails

ID Serval
serval:BIB_17DE48F514EA
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Gaucher disease: four families with previously undescribed mutations.
Périodique
Proceedings of the Association of American Physicians
Auteur(s)
Beutler E., Gelbart T., Balicki D., Demina A., Adusumalli J., Elsas L., Grinzaid K.A., Gitzelmann R., Superti-Furga A., Kattamis C., Liou B.B.
ISSN
1081-650X (Print)
ISSN-L
1081-650X
Statut éditorial
Publié
Date de publication
1996
Volume
108
Numéro
3
Pages
179-184
Langue
anglais
Résumé
We describe four families with patients with type I Gaucher disease exhibiting previously undescribed mutations of the glucocerebrosidase gene. We found Cherokee Indian woman to have a G-->C substitution in cDNA nucleotide 354, predicting a lysine-->aspargine substitution in amino acid 79 of the processed protein. In a Greek family, we found an allele with a C-->T substitution in nucleotide 475 giving rise to an arginine-->tryptophan substitution at amino acid 120. In another non-Jewish European patient, we identified a C-->T substitution in nucleotide 1223, predicting a threonine-->methionine mutation in amino acid 369. We found two non-Jewish European children to have a C-->T mutation at nucleotide 1357, predicting termination at codon 414. Although siblings carry the same two glucocerebrosidase mutations, in these families as in others we noted considerable differences in severity of clinical manifestations. Finding the reason for these differences is an important goal in the study of Gaucher disease.
Mots-clé
Adult, Child, Family, Female, Gaucher Disease/enzymology, Gaucher Disease/genetics, Glucosylceramidase/genetics, Humans, Male, Middle Aged, Point Mutation
Pubmed
Web of science
Création de la notice
14/03/2011 16:14
Dernière modification de la notice
20/08/2019 12:47
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