POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.
Mitochondrion
; 11(1): 223-7, 2011 Jan.
Article
en En
| MEDLINE
| ID: mdl-20691285
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Variación Genética
/
Esclerosis Cerebral Difusa de Schilder
/
Empalme del ARN
/
Exones
/
ADN Polimerasa Dirigida por ADN
Tipo de estudio:
Diagnostic_studies
Límite:
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Mitochondrion
Año:
2011
Tipo del documento:
Article
País de afiliación:
Francia