hrp0092p1-307 | Adrenals and HPA Axis (2) | ESPE2019

"CAH-X" Due to Homozygous Deletions of CYP21A2 and TNXB Exon 35 in a Newborn from the 17 OHP Screening

Stoeva Iva , Mihova Kalina , Georgieva Raliza , Vlahova Diana , Diankova Diana , Dimitrova-Dasheva Anna , Pramatarova Tania , Kaneva Radka

The CYP21A2 and the TNXB genes are highly homologous with their corresponding pseudogenes (CYP21A1P and TNXA), leading to frequent homologous recombination. The TNXB includes 43 exons, the mRNA encodes tenascin-X (TNX), an extracellular matrix glycoprotein, highly expressed in connective tissue.CAH patients with a "contiguous gene syndrome" comprising a deletion of both genes- CYP21A2 and TNXB have been described. Chimeric genes generated by larg...