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

doi:10.1016/j.ajhg.2021.06.013

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Article

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

American journal of human genetics - 5 Aug 2021

Gergics Peter, Smith Cathy, Bando Hironori, Jorge Alexander A L, Rockstroh-Lippold Denise, Vishnopolska Sebastian A, Castinetti Frederic, Maksutova Mariam, Carvalho Luciani Renata Silveira, Hoppmann Julia, Martínez Mayer Julián, Albarel Frédérique, Braslavsky Debora, Keselman Ana, Bergadá Ignacio, Martí Marcelo A, Saveanu Alexandru, Barlier Anne, Abou Jamra Rami, Guo Michael H, Dauber Andrew, Nakaguma Marilena, Mendonca Berenice B, Jayakody Sajini N, Ozel A Bilge, Fang Qing, Ma Qianyi, Li Jun Z, Brue Thierry, Pérez Millán María Ines, Arnhold Ivo J P, Pfaeffle Roland, Kitzman Jacob O, Camper Sally A

Abstract excerpt

Pituitary hormone deficiency occurs in ∼1:4,000 live births. Approximately 3% of the cases are due to mutations in the alpha isoform of POU1F1, a pituitary-specific transcriptional activator. We found four separate heterozygous missense variants in unrelated individuals with hypopituitarism that were predicted to affect a minor isoform, POU1F1 beta, which can act as a transcriptional repressor. These variants...

Topics

Adolescent
Adult
Child
Child, Preschool
High-Throughput Screening Assays
Humans
Hypopituitarism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Mutation

Pedigree

Pituitary Hormones

RNA Splicing

Transcription Factor Pit-1

Source

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Identifiers

PMID: 34270938
DOI: 10.1016/j.ajhg.2021.06.013
PMCID: PMC8387473

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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