CAH-X Syndrome: Genetic and Clinical Profile

被引：0
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作者：
Paola Concolino
Henrik Falhammar
机构：
[1] UOC Chimica,Dipartimento di Scienze di Laboratorio e Infettivologiche
[2] Biochimica e Biologia Molecolare Clinica,Department of Endocrinology
[3] Fondazione Policlinico Universitario Agostino Gemelli IRCCS,Department of Molecular Medicine and Surgery
[4] Karolinska University Hospital,undefined
[5] Karolinska Institutet,undefined
来源：
Molecular Diagnosis & Therapy | 2022年 / 26卷
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摘要：
The term CAH-X was coined to describe a subset of patients with 21-hydroxylase deficiency displaying a phenotype compatible with the hypermobility type of Ehlers Danlos syndrome. The genetic defect is due to the monoallelic presence of a CYP21A2 deletion extending into the gene encoding tenascin X (TNXB), a connective tissue extracellular matrix protein. The result is a chimeric TNXA/TNXB gene causing tenascin-X haploinsufficiency. The prevalence of CAH-X was estimated to be around 14–15% in large cohorts of patients with 21-hydroxylase deficiency. However, population studies are still scarce and the clinical picture of the syndrome has yet to be fully defined. In this review, we discuss the current knowledge regarding the genetic and clinical profile of the CAH-X syndrome.
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页码：293 / 300
页数：7
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