High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

ABSTRACT: Using a high throughput splicing reporter assay, we tested 1,080 single nucleotide variants in POU1F1, a key transcription factor essential for pituitary development. Our saturation splicing effect map identifies 96 splice disruptive variants, including 14 synonymous variants, of which 8 were found in unrelated patients diagnosed with hypopituitarism.

ORGANISM(S): Chlorocebus aethiops Homo sapiens

PROVIDER: GSE172504 | GEO | 2021/04/22

REPOSITORIES: GEO