ArticleThe Journal of molecular diagnostics : JMD2019
High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia.
Article in The Journal of molecular diagnostics : JMD, 2019. 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, 27 citations in OpenAlex.
- Diagnosing CAH-X syndrome by long-read sequencing and identifying a novel genotype.Orphanet journal of rare diseases · 2026Article
- Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-hydroxylase Deficiency in 457 Individuals.The Journal of clinical endocrinology and metabolism · 2026Article
- Novel cardiac abnormalities observed in CAH patients with tenascin-X haploinsufficiency.Frontiers in endocrinology · 2026Article
- Molecular characterization of the new clinical entity associated with congenital adrenal hyperplasia: the CAH-X syndrome in the Spanish population.Advances in laboratory medicine · 2023Article
- Article
- Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome.Annals of pediatric endocrinology & metabolism · 2023Article
- Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene.Hormones (Athens, Greece) · 2023Article
- PseudogeneGenes · 2023Article
- Long-Term Outcomes of Congenital Adrenal Hyperplasia.Endocrinology and metabolism (Seoul, Korea) · 2022Review
- Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency.Journal of clinical medicine · 2022Article
- CAH-X Syndrome: Genetic and Clinical Profile.Molecular diagnosis & therapy · 2022Review
- Congenital Adrenal Hyperplasia and Ehlers-Danlos Syndrome.Frontiers in endocrinology · 2022Review
- Biomarkers for Ehlers-Danlos Syndromes: There Is a Role?International journal of molecular sciences · 2021Review
- Reply to Lao Q and Merke DP.European journal of human genetics : EJHG · 2021Article
- Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras.European journal of human genetics : EJHG · 2021Article
- Letter to the Editor from Lao and Merke: "Ehlers-Danlos Syndrome: Molecular and Clirnical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia".The Journal of clinical endocrinology and metabolism · 2021Article
- Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes.Developmental dynamics : an official publication of the American Association of Anatomists · 2021Review
- Genes and Pseudogenes: Complexity of the RCCX Locus and Disease.Frontiers in endocrinology · 2021Review
- Unusual Combination of MEN-1 and the Contiguous Gene Deletion Syndrome of CAH and Ehlers-Danlos Syndrome (CAH-X).Journal of the Endocrine Society · 2020Article
- Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers-Danlos contiguous gene deletion syndrome CAH-X.BMC research notes · 2019Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Many patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency have CAH-X syndrome, a connective tissue dysplasia consistent with hypermobility-type Ehlers-Danlos syndrome due to a contiguous gene deletion involving the adjacent CYP21A2 and TNXB genes. CAH-X syndrome is caused by carrying CYP21A1P-TNXA/TNXB chimeric genes [CAH-X chimera 1 (CH-1) and chimera 2 (CH-2)] on one or more alleles. Genetic analysis is cumbersome due to pseudogene interference. We developed a PCR-based CAH-X high-throughput screening method to assess the copy numbers of TNXB exons 35 and 40; this method is amenable to either real-time quantitative PCR or droplet digital PCR (ddPCR). The assay was validated in a cohort of 278 subjects from 146 unrelated CAH families. Results were confirmed by a validated Sanger sequencing platform. A total of 44 CAH-X-positive calls were made, with 42 (26 CH-1 and 16 CH-2) confirmed. The assay had 100% sensitivity (42 true/42 positives), 99.2% specificity (234 true/236 negatives), and an overall 99.3% accuracy (276/278). Calls made by real-time quantitative PCR and ddPCR were consistent (100%), and ddPCR offered easier data interpretation. The CAH-X prevalence was 15.6% (21/135 probands), higher than the previously estimated 8.5%, and was particularly high (29.2% or 21/72) in those with a 30-Kb deletion. This assay is suitable for high-throughput CAH-X screening, especially in subjects testing positive for CAH in neonatal screening.
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