ArticleClinical genetics2022
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.
Article in Clinical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 17 citations in OpenAlex.
- Variants in NR6A1 as a cause for congenital renal, vertebral and uterine anomalies.Human genetics · 2026Article
- Familial caudal regression syndrome with complex spinal dysraphism presenting as recurrent cutaneous infection.Surgical neurology international · 2026Article
- Positive Evolution of a Child Suffering from Caudal Regression Syndrome and Agenesia Sacra After Treatment with Growth Hormone and Rehabilitation.International journal of molecular sciences · 2025Article
- Molecular mechanism, diagnosis, and treatment of VACTERL association.Frontiers in pediatrics · 2025Review
- Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.American journal of human genetics · 2024Article
- Novel inheritedCold Spring Harbor molecular case studies · 2023Article
- Genetic Disruption of Cilia-Associated Signaling Pathways in Patients with VACTERL Association.Children (Basel, Switzerland) · 2023Article
- Caudal Regression Syndrome-A Narrative Review: An Orthopedic Point of View.Children (Basel, Switzerland) · 2023Review
- The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.Clinical genetics · 2022Article
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Authors and funding
15 authors at 5 institutions in 3 countries.
Funding
Abstract
The caudal type homeobox 2 (CDX2) gene encodes a developmental regulator involved in caudal body patterning. Only three pathogenic variants in human CDX2 have been described, in patients with persistent cloaca, sirenomelia and/or renal and anogenital malformations. We identified five patients with de novo or inherited pathogenic variants in CDX2 with clinical phenotypes that partially overlap with previous cases, that is, imperforate anus and renal, urogenital and limb abnormalities. However, additional clinical features were seen including vertebral agenesis and we describe considerable phenotypic variability, even in unrelated patients with the same recurrent p.(Arg237His) variant. We propose CDX2 variants as rare genetic cause for a multiple congenital anomaly syndrome that can include features of caudal regression syndrome and VACTERL. A causative role is further substantiated by the relationship between CDX2 and other proteins encoded by genes that were previously linked to caudal abnormalities in humans, for example, TBXT (sacral agenesis and other vertebral segmentation defects) and CDX1 (anorectal malformations). Our findings confirm the essential role of CDX2 in caudal morphogenesis and formation of cloacal derivatives in humans, which to date has only been well characterized in animals.
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