Mutation analysis in 54 propionic acidemia patients.

Details

Serval ID
serval:BIB_7C0241EE84ED
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Mutation analysis in 54 propionic acidemia patients.
Journal
Journal of Inherited Metabolic Disease
Author(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
Publication state
Published
Issued date
01/2012
Volume
35
Number
1
Pages
51-63
Language
english
Notes
Publication types: Journal ArticlePublication Status: ppublish
Abstract
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
Create date
30/01/2012 15:08
Last modification date
20/08/2019 14:37
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