ArticleEMBO molecular medicine2016
Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.
Article in EMBO molecular medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 25 citations in OpenAlex.
- Phenotype Variations in a Family with Various Rearrangements in the Locus of theInternational journal of molecular sciences · 2026Article
- Linking shox/shox2 deficiency with fgfr3 gain-of-function and natriuretic peptides.Frontiers in endocrinology · 2026Article
- Serum osteocalcin as a novel biomarker for differentiating growth hormone deficiency from idiopathic short stature.Frontiers in endocrinology · 2026Article
- The genetic basis of human height.Nature reviews. Genetics · 2025Review
- Article
- New gene discoveries in skeletal diseases with short stature.Endocrine connections · 2021Review
- Zebrafish Models for Human Skeletal Disorders.Frontiers in genetics · 2021Review
- Identification and Tissue-Specific Characterization of Novel SHOX-Regulated Genes in Zebrafish Highlights SOX Family Members Among Other Genes.Frontiers in genetics · 2021Article
- Article
- Regulating Retinoic Acid Availability during Development and Regeneration: The Role of the CYP26 Enzymes.Journal of developmental biology · 2020Review
- SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New Mutation.Journal of pediatric genetics · 2019Article
- Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.Endocrine reviews · 2019Review
- Heterozygous Deletion of theFrontiers in genetics · 2019Article
- Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene.Scientific reports · 2018Article
- Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature.European journal of human genetics : EJHG · 2018Article
- Growth and growth disorders in 2017: Genetic and epigenetic regulation of childhood growth.Nature reviews. Endocrinology · 2018Review
- Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.EMBO molecular medicine · 2016Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the homeobox gene SHOX cause SHOX deficiency, a condition with clinical manifestations ranging from short stature without dysmorphic signs to severe mesomelic skeletal dysplasia. In rare cases, individuals with SHOX deficiency are asymptomatic. To elucidate the factors that modify disease severity/penetrance, we studied a three-generation family with SHOX deficiency. The variant p.Phe508Cys of the retinoic acid catabolizing enzyme CYP26C1 co-segregated with the SHOX variant p.Val161Ala in the affected individuals, while the SHOX mutant alone was present in asymptomatic individuals. Two further cases with SHOX deficiency and damaging CYP26C1 variants were identified in a cohort of 68 individuals with LWD The identified CYP26C1 variants affected its catabolic activity, leading to an increased level of retinoic acid. High levels of retinoic acid significantly decrease SHOX expression in human primary chondrocytes and zebrafish embryos. Individual morpholino knockdown of either gene shortens the pectoral fins, whereas depletion of both genes leads to a more severe phenotype. Together, our findings describe CYP26C1 as the first genetic modifier for SHOX deficiency.
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