Mutation analysis in 54 propionic acidemia patients.

Détails

ID Serval
serval:BIB_7C0241EE84ED
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Mutation analysis in 54 propionic acidemia patients.
Périodique
Journal of Inherited Metabolic Disease
Auteur(s)
Kraus J.P., Spector E., Venezia S., Estes P., Chiang P.W., Creadon-Swindell G., Müllerleile S., de Silva L., Barth M., Walter M., Walter K., Meissner T., Lindner M., Ensenauer R., Santer R., Bodamer O.A., Baumgartner M.R., Brunner-Krainz M., Karall D., Haase C., Knerr I., Marquardt T., Hennermann J.B., Steinfeld R., Beblo S., Koch H.G., Konstantopoulou V., Scholl-Bürgi S., van Teeffelen-Heithoff A., Suormala T., Ugarte M., Sperl W., Superti-Furga A., Schwab K.O., Grünert S.C., Sass J.O.
ISSN
0141-8955
ISSN-L
0141-8955
Statut éditorial
Publié
Date de publication
01/2012
Volume
35
Numéro
1
Pages
51-63
Langue
anglais
Notes
Publication types: Journal ArticlePublication Status: ppublish
Résumé
Deficiency of propionyl CoA carboxylase (PCC), a dodecamer of alpha and beta subunits, causes inherited propionic acidemia. We have studied, at the molecular level, PCC in 54 patients from 48 families comprised of 96 independent alleles. These patients of various ethnic backgrounds came from research centers and hospitals in Germany, Austria and Switzerland. The thorough clinical characterization of these patients was described in the accompanying paper (Grünert et al. 2012). In all 54 patients, many of whom originated from consanguineous families, the entire PCCB gene was examined by genomic DNA sequencing and in 39 individuals the PCCA gene was also studied. In three patients we found mutations in both PCC genes. In addition, in many patients RT-PCR analysis of lymphoblast RNA, lymphoblast enzyme assays, and expression of new mutations in E.coli were carried out. Eight new and eight previously detected mutations were identified in the PCCA gene while 15 new and 13 previously detected mutations were found in the PCCB gene. One missense mutation, p.V288I in the PCCB gene, when expressed in E.coli, yielded 134% of control activity and was consequently classified as a polymorphism in the coding region. Numerous new intronic polymorphisms in both PCC genes were identified. This study adds a considerable amount of new molecular data to the studies of this disease.
Pubmed
Web of science
Création de la notice
30/01/2012 16:08
Dernière modification de la notice
03/03/2018 18:36
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