Document Detail

POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.
MedLine Citation:
PMID:  20691285     Owner:  NLM     Status:  In-Process    
The POLG genes were sequenced in two unrelated patients presenting with Alpers syndrome. The novel c.3626_3629dupGATA and the c.3643+2T>C alleles were associated in trans with p.A467T and p.[W748S;E1143G], respectively. POLG transcripts from skin fibroblasts showed complete exon 22 skipping for patient 2, but surprisingly partial exon 22 skipping from the c.3626_3629dupGATA for patient 1. The creation of a putative exonic splicing silencer could be responsible for the splicing anomaly observed in patient 1. Both c.3643+2T>C and c.3626_3629dupGATA create a premature termination codon and a low polymerase γ activity in skin fibroblasts is responsible for the severe phenotype in these patients.
Bénédicte Mousson de Camaret; Maïté Chassagne; Martine Mayençon; Sylvie Padet; Hervé Crehalet; Pascale Clerc-Renaud; Isabelle Rouvet; Marie-Thérèse Zabot; François Rivier; Pierre Sarda; Vincent des Portes; Dominique Bozon
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-08-04
Journal Detail:
Title:  Mitochondrion     Volume:  11     ISSN:  1872-8278     ISO Abbreviation:  Mitochondrion     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2010-12-15     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100968751     Medline TA:  Mitochondrion     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  223-7     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 Mitochondria Research Society. Published by Elsevier B.V. All rights reserved.
Centre de Biologie et de Pathologie Est - CHU Lyon, Service des Maladies Héréditaires du Métabolisme, 69677 Bron, France.
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