ArticleJournal of medical case reports2013
Duplication of the ALDH1A2 gene in association with pentalogy of Cantrell: a case report.
Article in Journal of medical case reports, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 34 citations in OpenAlex.
- Article
- Preliminary exploration of potential biomarkers for heart failure and bipolar disorder: an exploratory study based on bioinformatics.Frontiers in psychiatry · 2025Article
- Canagliflozin combined with aerobic exercise protects against chronic heart failure in rats.iScience · 2024Article
- The pentalogy of Cantrell: A rare and challenging prenatal diagnosis.International journal of surgery case reports · 2023Article
- Pentalogy of Cantrell in Two Neonate Littermate Puppies: A Spontaneous Animal Model Suggesting Familial Inheritance.Animals : an open access journal from MDPI · 2023Article
- Article
- ALDH1A2-related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway.American journal of medical genetics. Part A · 2023Article
- Radiological findings of partial expression pentalogy of Cantrell and other multiple congenital anomalies: A rare case report.Radiology case reports · 2022Article
- Article
- Pentalogy of Cantrell Associated with Ectopia Cordis: A Case Report.Pediatric health, medicine and therapeutics · 2022Article
- Genetics of diaphragmatic hernia.European journal of human genetics : EJHG · 2021Review
- Role of carotenoids and retinoids during heart development.Biochimica et biophysica acta. Molecular and cell biology of lipids · 2020Review
- Complete and Incomplete Pentalogy of Cantrell.Children (Basel, Switzerland) · 2019Article
- Pentalogy of Cantrell.Seminars in pediatric surgery · 2019Review
- A Recurrent Case of Pentalogy of Cantrell: A Rare Case with Sonological Findings and Review of Literature.Polish journal of radiology · 2017Article
- VISIONET: intuitive visualisation of overlapping transcription factor networks, with applications in cardiogenic gene discovery.BMC bioinformatics · 2015Article
- Pentalogy of Cantrell: a case report.BJR case reports · 2015Article
- [Ventricular diverticulum in Cantrell´s pentalogy: rare but not isolated entities].Archivos peruanos de cardiologia y cirugia cardiovascularArticle
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionThe pentalogy of Cantrell is rare clustering of congenital defects, first described by Cantrell and colleagues in 1958. The exact pathogenesis for the pentalogy remains unknown and no specific genetic abnormalities have been correlated; however, a failure of embryogenesis has been suspected. The microduplication of chromosome 15q21.3 (57,529,846 to 58,949,448) found in our patient with pentalogy of Cantrell has not been described previously. CASE PRESENTATION: We describe a case of a newborn Caucasian male baby with prenatally diagnosed pentalogy of Cantrell and a novel maternally inherited copy number variant detected by chromosome microarray analysis. Among the genes within the duplicated region is ALDH1A2, encoding the enzyme retinaldehyde dehydrogenase type 2.
conclusionVital for retinoic acid synthesis during early development, ALDH1A2 has previously been demonstrated in animal models to have a strong association with congenital heart disease and diaphragmatic hernia, two key elements comprising pentalogy of Cantrell. It is possible that perturbation of retinoic acid levels during development secondary to this microduplication could underlie the pathology observed in the current case of pentalogy of Cantrell.
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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.