Figure 3
From: Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
Assays showing abnormal splice products associated with splice variants. (a) Image of reverse-transcription polymerase chain reaction (RT-PCR) products associated with the splice variant in family 1. Total lymphoblast RNA was reverse-transcribed and PCR-amplified with primers from exons 18 and 21 of LZTR1. Two products were present in all individuals: a normally spliced product of 302 bp and an alternatively spliced product of 386 bp retaining intron 19. The carrier mother (lane 4) and affected children (lanes 6–8) had an additional RT-PCR product of 885 bp retaining intron 18. This product was not seen in either the father (lane 5) or control lymphoblast RNA (lane 3). Size markers are shown in lane 1 and a no-RNA control in lane 2. (b) Image of RT-PCR products associated with the splice variant in family 3. Total lymphoblast RNA was reverse transcribed and PCR-amplified with primers from exons 15 and 18 of LZTR1. A normally spliced product of 465 bp was present in both a control (lane 3) and an affected individual (lane 4). The affected child (lane 4) had an additional RT-PCR product of 583 bp retaining a 117-bp alternate exon from within intron 16. This product was not seen at a significant level in control lymphoblast RNA (lane 3). Size markers are shown in lane 1 and a no-RNA control in lane 2.
