Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2068848 | Mitochondrion | 2011 | 5 Pages |
Abstract
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.
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Authors
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,