Skip to main content
Fig. 5 | BMC Medical Genetics

Fig. 5

From: Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

Fig. 5

cDNA analysis of the c.86 + 2 T > C variant. a RT-PCR of an unrelated control subject (lane 2) using a forward primer located in exon 1 and a reverse primer in exon 4 revealed an abundant product of 382 bp corresponding to the major isoform of TMEM126A. In addition, a weak product could be identified, which stems from a minor isoform that lacks exon 2. The RT-PCR of the affected proband in family A (II:1) shows that only the minor isoform is present (lane 3). b Sequencing shows skipping of exon 2 in the single RT-PCR product of the affected proband (upper lane) and for the minor RT-PCR product of an unrelated control subject (middle lane) while correct splicing is observed for the abundant RT-PCR product in an unrelated control subject (lower lane). RT-PCR: reverse transcription polymerase chain reaction; NRT, no reverse transcriptase control; NTC, non template control

Back to article page