ArticleGenome medicine2024
Knockout mice with pituitary malformations help identify human cases of hypopituitarism.
Article in Genome medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Consensus Pituitary Atlas, a scalable resource for annotation, novel marker discovery, and analyses in mouse pituitary gland research.Cell reports · 2026Article
- Time-coexpress: temporal trajectory modeling of dynamic gene co-expression patterns using single-cell transcriptomics data.BMC bioinformatics · 2025Article
- Hypopituitarism: genetic, developmental, and acquired etiologies with a focus on the emerging concept of autoimmune hypophysitis.Endocrine journal · 2025Review
- Nucleoredoxin regulates WNT signaling during pituitary stem cell differentiation.Human molecular genetics · 2025Article
- Nucleoredoxin regulates WNT signaling during pituitary stem cell differentiation.bioRxiv : the preprint server for biology · 2025Article
- An overview of hypopituitarism's causes.Frontiers in endocrinology · 2025Review
- Knockout mice with pituitary malformations help identify human cases of hypopituitarism.Genome medicine · 2024Article
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Authors and funding
14 authors.
Funding
Abstract
backgroundCongenital hypopituitarism (CH) and its associated syndromes, septo-optic dysplasia (SOD) and holoprosencephaly (HPE), are midline defects that cause significant morbidity for affected people. Variants in 67 genes are associated with CH, but a vast majority of CH cases lack a genetic diagnosis. Whole exome and whole genome sequencing of CH patients identifies sequence variants in genes known to cause CH, and in new candidate genes, but many of these are variants of uncertain significance (VUS).
methodsThe International Mouse Phenotyping Consortium (IMPC) is an effort to establish gene function by knocking-out all genes in the mouse genome and generating corresponding phenotype data. We used mouse embryonic imaging data generated by the Deciphering Mechanisms of Developmental Disorders (DMDD) project to screen 209 embryonic lethal and sub-viable knockout mouse lines for pituitary malformations.
resultsOf the 209 knockout mouse lines, we identified 51 that have embryonic pituitary malformations. These genes not only represent new candidates for CH, but also reveal new molecular pathways not previously associated with pituitary organogenesis. We used this list of candidate genes to mine whole exome sequencing data of a cohort of patients with CH, and we identified variants in two unrelated cases for two genes, MORC2 and SETD5, with CH and other syndromic features.
conclusionsThe screening and analysis of IMPC phenotyping data provide proof-of-principle that recessive lethal mouse mutants generated by the knockout mouse project are an excellent source of candidate genes for congenital hypopituitarism in children.
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