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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing

Fig. 1

a and b Pedigrees of the described and analyzed ADOA families. Index patients are indicated with an arrow. Black symbols represent affected individuals. Symbols containing ‘n.a.’ (not analyzed) indicate individuals with unknown genotype and/or phenotype (not described in this study). c Sequence analysis of the OPA1 gene at the genomic level. All affected family members of family 1 carrying a heterozygous intronic 22 bp insertion c.611-37_611-38insACTGGAGAATGTAAAGGGCTTT and a 11 bp deletion c.611-6_611-16delCATATTTATCT (indicated with the arrow). d Sequence analysis of OPA1 in the index patient of family 2 discloses a heterozygous intronic 4 bp deletion c.2012+4_2012+7AGTA which was absent in healthy parents and the control

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