Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome

Mutations of theCYP21A2 gene encoding adrenal 21-hydroxylase cause congenital adrenal hyperplasia (CAH). TheCYP21A2 gene is partially overlapped by theTNXB gene, which encodes an extracellular matrix protein called Tenascin-X (TNX). Mutations affecting both alleles ofTNXB cause a severe, autosomal recessive form of Ehlers-Danlos syndrome (EDS). Rarely, patients with severe, salt-wasting CAH have deletions ofCYP21A2 that extend intoTNXB, resulting in a “contiguous gene syndrome” consisting of CAH and EDS. Heterozygosity forTNXB mutations causing haploinsufficiency of TNX may be associated with the mild “hypermobility form” of EDS, which principally affects small and large joints. Studies of patients with salt-wasting CAH found that up to 10% had clinical features of EDS, associated joint hypermobility, haploinsufficiency of TNX and heterozygosity forTNXB mutations, now called “CAH-X.” These patients have joint hypermobility and a spectrum of other comorbidities associated with their connective tissue disorder, including chronic arthralgia, joint subluxations, hernias, and cardiac defects. Other disorders are beginning to be associated with TNX deficiency, including f amilial vesicoureteral reflux and neurologic disorders. Further work is needed to delineate the full spectrum of TNX-deficient disorders, with and without associated CAH.Horm Res Paediatr
Source: Hormone Research in Paediatrics - Category: Endocrinology Source Type: research

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