Feasibility of RNA studies on illegitimate transcription for molecular characterization of splicing mutations in the ATP7B gene: a case report.

Détails

ID Serval
serval:BIB_C6E0F4F9111B
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
Institution
Titre
Feasibility of RNA studies on illegitimate transcription for molecular characterization of splicing mutations in the ATP7B gene: a case report.
Périodique
Molecular and Cellular Probes
Auteur(s)
Zappu A., Lepori M.B., Incollu S., Dessì V., Noli M.C., Mameli E., Bonafé L., Garcia Dépraz N., De Virgiliis S., Cao A., Loudianos G.
ISSN
1096-1194 (Electronic)
ISSN-L
0890-8508
Statut éditorial
Publié
Date de publication
2012
Volume
26
Numéro
2
Pages
63-65
Langue
anglais
Notes
Publication types: Case Reports ; Journal ArticlePublication Status: ppublish
Résumé
Approximately 520 Wilson disease-causing mutations in the ATP7B gene have been described to date. In this study we report DNA and RNA analyses carried out for molecular characterization of a consensus sequence splicing mutation found in homozygosity in a Swiss Wilson disease patient. RNA analysis of 1946 +6 T→C in both the peripheral lymphoblasts and liver resulted in the production in the propositus of only an alternative transcript lacking exons 6, 7, and 8 resulting most likely in alterations of cell biochemistry and disease. The patient presents an early form of severe hepatic disease characterized by hepatosplenomegaly, reduced hepatic function, anemia and thrombocytopenia indicating that 1946 +6 T→C is a severe mutation. Since identical results were obtained from both peripheral lymphoblasts and liver they also suggest that RNA studies of illegitimate transcripts can be safely used for molecular characterization of ATP7B splicing mutations, thus improving genetic counseling and diagnosis of Wilson disease. Moreover these studies, contribute to reveal the exact molecular mechanisms producing Wilson disease.
Mots-clé
Adenosine Triphosphatases/genetics, Base Sequence, Cation Transport Proteins/genetics, Child, Consensus Sequence, Female, Hepatolenticular Degeneration/diagnosis, Hepatolenticular Degeneration/genetics, Homozygote, Humans, Molecular Diagnostic Techniques, Point Mutation, Protein Isoforms/genetics, RNA Splice Sites/genetics, Sequence Analysis, RNA, Transcription, Genetic
Pubmed
Web of science
Création de la notice
09/06/2012 19:19
Dernière modification de la notice
20/08/2019 16:42
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