ReviewOrphanet journal of rare diseases2021
Currarino syndrome: a comprehensive genetic review of a rare congenital disorder.
Review in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 31 citations in OpenAlex.
- Atypical presacral masses in Currarino syndrome: a case series.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Article
- Whole exome sequencing uncovers novel genetic insights into Tethered cord syndrome.Molecular genetics and genomics : MGG · 2026Article
- Multidisciplinary Approach in Management of Currarino Syndrome in a Female Infant: A Case Report on Rare Congenital Triad and Focused Literature Review.Clinical case reports · 2026Article
- Medium-long term bowel function and quality of life in complete Currarino syndrome.Pediatric surgery international · 2026Article
- Follow-up of defecation, urination, growth and development in children with Currarino syndrome.Translational pediatrics · 2026Article
- Initially suspected case of prenatal VACTERL association ultimately diagnosed as Currarino syndrome via magnetic resonance imaging: a case description.Quantitative imaging in medicine and surgery · 2026Article
- Fetal MRI: abdominal cystic lesions.Insights into imaging · 2026Article
- Currarino syndrome associated with an isolated 7q terminal deletion in Korea: a case report.Journal of Yeungnam medical science · 2026Article
- Naked sacrococcygeal teratoma associated with dorsal meningocoele and sacrococcygeal inversion: an atypical presentation of Currarino syndrome.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Review
- Neurosurgical management of a giant anterior sacral meningocele in a patient with combined Currarino syndrome and caudal duplication anomaly: illustrative case.Journal of neurosurgery. Case lessons · 2025Article
- Familial constipation and death: one family with Currarino syndrome.BMJ case reports · 2025Article
- Molecular mechanism, diagnosis, and treatment of VACTERL association.Frontiers in pediatrics · 2025Review
- MODY Only Monogenic? A Narrative Review of theInternational journal of molecular sciences · 2024Review
- Article
- Molecular landscape of congenital vertebral malformations: recent discoveries and future directions.Orphanet journal of rare diseases · 2024Review
- Article
- Case report: Sacral agenesis in two boxer dogs: clinical presentation, diagnostic investigations, and outcome.Frontiers in veterinary science · 2023Article
- Presacral mature cystic teratoma associated with Currarino syndrome in an adolescent with androgen insensitivity: illustrative case.Journal of neurosurgery. Case lessons · 2022Article
- Review
- Transcription Factor Hb9 Is Expressed in Glial Cell Lineages in the Developing Mouse Spinal Cord.eNeuroArticle
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
backgroundThe triad of a presacral mass, sacral agenesis and an anorectal anomaly constitutes the rare Currarino syndrome (CS), which is caused by dorsal-ventral patterning defects during embryonic development. The major causative CS gene is MNX1, encoding a homeobox protein. MAIN BODY: In the majority of patients, CS occurs as an autosomal dominant trait; however, a female predominance observed, implies that CS may underlie an additional mode(s) of inheritance. Often, the diagnosis of CS is established solely by clinical findings, impacting a detailed analysis of the disease. Our combined data, evaluating more than 60 studies reporting patients with CS-associated mutations, revealed a slightly higher incidence rate in females with a female-to-male ratio of 1.39:1. Overall, MNX1 mutation analysis was successful in only 57.4% of all CS patients investigated, with no mutation detected in 7.7% of the familial and 68% of the sporadic patients. Our studies failed to detect the presence of an expressed MNX1 isoform that might explain at least some of these mutation-negative cases.
conclusionAside from MNX1, other genes or regulatory regions may contribute to CS and we discuss several cytogenetic studies and whole-exome sequencing data that have implicated further loci/genes in its etiology.
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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.