ArticleGenetics in medicine : official journal of the American College of Medical Genetics2024
Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- A Novel Intronic Variant inGenes · 2026Review
- Thorough evaluation of a novel splice variant in a female patient with MED12-related intellectual disability.Neurogenetics · 2026Article
- Congenital Coarctation of the Aorta in a Patient WithAnnals of internal medicine. Clinical cases · 2026Article
- Antenatal Pulmonary Hypoplasia Expands the Variety of Phenotypes Associated With MED12-Related Disorders.Prenatal diagnosis · 2025Article
- Mediator complex: update of key insights into transcriptional regulation of ancestral framework and its role in cardiovascular diseases.European journal of medical research · 2025Review
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Authors and funding
20 authors.
Funding
Abstract
purposeHardikar syndrome (HS, MIM #301068) is a female-specific multiple congenital anomaly syndrome characterized by retinopathy, orofacial clefting, aortic coarctation, biliary dysgenesis, genitourinary malformations, and intestinal malrotation. We previously showed that heterozygous nonsense and frameshift variants in MED12 cause HS. The phenotypic spectrum of disease and the mechanism by which MED12 variants cause disease is unknown. We aim to expand the phenotypic and molecular landscape of HS and elucidate the mechanism by which MED12 variants cause disease.
methodsWe clinically assembled and molecularly characterized a cohort of 11 previously unreported individuals with HS. Additionally, we studied the effect of MED12 deficiency on ciliary biology, hedgehog, and yes-associated protein (YAP) signaling; pathways implicated in diseases with phenotypic overlap with HS.
resultsWe report novel phenotypes associated with HS, including cardiomyopathy, arrhythmia, and vascular anomalies, and expand the molecular landscape of HS to include splice site variants. We additionally demonstrate that MED12 deficiency causes decreased cell ciliation, and impairs hedgehog and YAP signaling.
conclusionOur data support updating HS standard-of-care to include regular cardiac imaging, arrhythmia screening, and vascular imaging. We further propose that dysregulation of ciliogenesis and YAP and hedgehog signaling contributes to the pathogenesis of HS.
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