FIGURE

Fig. 2

ID

ZDB-FIG-260414-7

Publication

Wirth et al., 2026 - SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions

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Fig. 2

Splicing of SMN1-VUS in patient-derived lymphoblastoid cell lines is unaffected (A) The RNA region chr5:70951940–70951980 (GRCh38/hg38) encompassing the two SMN1-VUSs overlaps with a significant Hi-C peak in ENCODE data, suggesting potential regulatory relevance (https://genome.ucsc.edu). (B) Chromatogram of SMN1-855VUS cDNA showing clean exon-exon boundaries between exons 6–7 and 7–8, with no evidence of exon 7 skipping in P1, ruling out aberrant splicing. cDNA was reverse transcribed from total RNA isolated from the Epstein Barr Virus (EBV)-transformed lymphoblastoid cell line of P1 and SMN1-855VUS transcripts amplified with primers localized in exons 5 and 8. (C) PCR analysis of SMN transcripts (exons 5–8) after DdeI digestion in P2. For SMN1-861VUS, only full-length (FL) transcripts are visible; no Δ7-SMN1-861VUS transcripts are detected. In contrast, SMN2 yields both FL and Δ7 transcripts. cDNA was reverse transcribed from total RNA isolated from the EBV-transformed lymphoblastoid cell line of P2.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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