ArticleMolecular genetics & genomic medicine2020
Haploinsufficiency of the FOXA2 associated with a complex clinical phenotype.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 8 citations in OpenAlex.
- Deriving comprehensive literature trends on multi-omics analysis studies in autism spectrum disorder using literature mining pipeline.Frontiers in neuroscience · 2024Article
- FOXA2 suppresses endometrial carcinogenesis and epithelial-mesenchymal transition by regulating enhancer activity.The Journal of clinical investigation · 2022Article
- Aberrant development of pancreatic beta cells derived from human iPSCs with FOXA2 deficiency.Cell death & disease · 2021Article
- Haploinsufficiency of the FOXA2 associated with a complex clinical phenotype.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThere are few reports describing the proximal deletions of the short arm of chromosome 20, making it difficult to predict the likely consequences of these deletions. Most previously reported cases have described the association of 20p11.2 deletions with Alagille syndrome, while there are others that include phenotypes such as panhypopituitarism, craniofacial dysmorphism, polysplenia, autism, and Hirschsprung disease.
methodsMolecular karyotyping, cytogenetics, and DNA sequencing were undertaken in a child to study the genetic basis of a complex phenotype consisting of craniofacial dysmorphism, ocular abnormalities, ectopic inguinal testes, polysplenia, growth hormone deficiency, central hypothyroidism, and gastrointestinal system anomalies.
resultsWe report the smallest described de novo proximal 20p11.2 deletion, which deletes only the FOXA2 leading to the above complex phenotype.
conclusionsHaploinsufficiency of the FOXA2 only gene is associated with a multisystem disorder.
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