ArticleAmerican journal of human genetics2012
Cantú syndrome is caused by mutations in ABCC9.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 91 papers, 1 of them a synthesis that pooled it.
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Who cites it
91 citing papers in PubMed, 1 synthesis or guideline pooled it, 166 citations in OpenAlex.
- ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology.Acta neuropathologica · 2014Pooled it
- Pharmacogenomic Variability of Oral Baclofen Clearance and Clinical Response in Children With Cerebral Palsy.PM & R : the journal of injury, function, and rehabilitation · 2018Trial
- ABCC9/SUR2 has a Complex Expression Pattern in Human Brain Gliovascular Unit Cells, Including Astrocytes.Journal of molecular neuroscience : MN · 2026Article
- Cantú Syndrome: A Poorly Understood Multi-Organ Disorder.International journal of molecular sciences · 2026Review
- From Array-CGH to Whole-Genome Sequencing: A 29-Year Diagnostic Journey Culminating in the Identification of a De Novo ABCC9 Variant Consistent with Cantú Syndrome.Diagnostics (Basel, Switzerland) · 2026Article
- Muscle fatigue arising intrinsically from SUR2- but not Kir6.1-dependent gain-of-function in Cantu syndrome mice.The Journal of general physiology · 2025Article
- Beyond Tachycardia-Induced Cardiomyopathy: ABCC9-Related Dilated Cardiomyopathy and Familial Atrial Fibrillation.JACC. Case reports · 2025Article
- The clinical and genetic spectrum of pediatric hypertrophic cardiomyopathy manifesting before one year of age.Pediatric research · 2025Article
- More than a Diagnosis: How Prenatal Identification of Cantú Syndrome Transformed a Family's Medical Narrative.Journal of clinical medicine · 2025Article
- Automated patch clamp analysis of heterologously expressed Kir6.2/SUR1 and Kir6.1/SUR2B KAmerican journal of physiology. Cell physiology · 2025Article
- Bayliss-Starling Prize Lecture: KThe Journal of physiology · 2025Article
- Cantú Syndrome With Acromegaloid Features, Multiple Endocrinopathies, and Infection Susceptibility.JCEM case reports · 2025Article
- Identifying Genes Associated with the Anticancer Activity of a Fluorinated Chalcone in Triple-Negative Breast Cancer Cells Using Bioinformatics Tools.International journal of molecular sciences · 2025Article
- Secondary Cutis Verticis Gyrata Induced by Long-Term Use of High-Dose Topical Minoxidil.Skin appendage disorders · 2025Article
- Gain-of-function mutations in KATP channel subunits compromise colonic tight junction integrity and epithelial homeostasis in murine models of Cantú syndrome.Frontiers in medicine · 2025Article
- Characterization of four structurally diverse inhibitors of SUR2-containing KChannels (Austin, Tex.) · 2024Article
- Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).American journal of medical genetics. Part A · 2024Article
- Mitochondrial Ca2+-coupled generation of reactive oxygen species, peroxynitrite formation, and endothelial dysfunction in Cantú syndrome.JCI insight · 2024Article
- Discovery and Characterization of VU0542270, the First Selective Inhibitor of Vascular Kir6.1/SUR2B KMolecular pharmacology · 2024Article
- Pulmonary hypertension associated with diazoxide: the SUR1 paradox.ERJ open research · 2023Review
31 more citing papers are in PubMed but not listed here.
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Authors and funding
21 authors at 12 institutions in 8 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cantú syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Using an exome-sequencing approach applied to one proband-parent trio and three unrelated single cases, we identified heterozygous mutations in ABCC9 in all probands. With the inclusion of the remaining cohort of ten individuals with Cantú syndrome, a total of eleven mutations in ABCC9 were found. The de novo occurrence in all six simplex cases in our cohort substantiates the presence of a dominant disease mechanism. All mutations were missense, and several mutations affect Arg1154. This mutation hot spot lies within the second type 1 transmembrane region of this ATP-binding cassette transporter protein, which may suggest an activating mutation. ABCC9 encodes the sulfonylurea receptor (SUR) that forms ATP-sensitive potassium channels (K(ATP) channels) originally shown in cardiac, skeletal, and smooth muscle. Previously, loss-of-function mutations in this gene have been associated with idiopathic dilated cardiomyopathy type 10 (CMD10). These findings identify the genetic basis of Cantú syndrome and suggest that this is a new member of the potassium channelopathies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.