ArticleThe Journal of clinical endocrinology and metabolism2021
Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia.
Article in The Journal of clinical endocrinology and metabolism, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 20 citations in OpenAlex.
- Molecular Landscape of Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency in India.Indian journal of pediatrics · 2026Article
- Splicing Alterations Associated with Multiple Homozygous TNXB Variants in a Patient with Suspected Classical-Like Ehlers-Danlos Syndrome.Biochemical genetics · 2026Article
- 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
- TNXB modulates radiosensitivity of esophageal cancer through the ATM/P53 pathway.American journal of translational research · 2025Article
- Comparison of long-read sequencing and MLPA combined with long-PCR sequencing ofFrontiers in genetics · 2024Article
- Article
- 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
- 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
- Therapeutic difficulties in a patient with Ehlers-Danlos syndrome and numerous symptomatic premature ventricular contractions-case report and literature review.Frontiers in cardiovascular medicine · 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
- 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
- Genes and Pseudogenes: Complexity of the RCCX Locus and Disease.Frontiers in endocrinology · 2021Review
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextThe syndrome CAH-X is due to a contiguous gene deletion of CYP21A2 and TNXB resulting in TNXA/TNXB chimeras.
objectiveTo analyze TNXB gene status and to clinically evaluate the Ehlers-Danlos syndrome phenotype in a large cohort of Argentine congenital adrenal hyperplasia (CAH) patients to assess the prevalence of this condition in our population.
methodsTNXB gene analysis was performed in 66 nonrelated CAH patients that were carriers of the CYP21A2 gene deletion. A molecular strategy based on multiplex ligation-dependent probe amplification and Sanger sequencing analysis was developed allowing for the detection of different, previously described TNXA/TNXB chimeras, named CH1, CH2, and CH3. The main outcome measures were TNXB status of CAH patients that were carriers of the CYP21A2 deletion in the homozygous or heterozygous state.
resultsTNXA/TNXB CH1 was found in 41%, CH2 in 29%, and CH3 in 1% of nonrelated alleles carrying the CYP21A2 deletion. Thus, overall 71% of alleles were found to carry a contiguous gene deletion. Sixty-seven percent of patients analyzed had a monoallelic form and 6% a biallelic form. All patients with the biallelic form had severe skin hyperextensibility and generalized joint hypermobility.
conclusionBased on the high frequency of TNXB alterations found in CYP21A2 deletion carrier alleles, we recommend evaluating TNXB status in these patients, and assessing connective tissue dysplasia, including cardiologic alterations in positive cases. The number of patients undergoing cardiological evaluation should be expanded to determine the incidence of structural and functional abnormalities in this cohort.
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