Coiled Coil Domain Containing Protein 102B (CCDC102B)

Mapping of this deletion using fluorescence in situ hybridization revealed three deleted genes—CDH19, DSEL, and TXNDC10, and one gene that contained the deletion breakpoint, CCDC102B.

In the murine diaphragm, Dsel was only weakly expressed at the time of diaphragm closure and its expression in C2C12 myoblast cells did not change significantly during myoblast differentiation, thus reducing the likelihood that the gene is involved in myogenesis of the diaphragm. Although it is possible that the 18q22.1 deletion and haploinsufficiency for DSEL contributed to the diaphragmatic defect in the patient, a definite role for DSEL and decorin in the formation of the collagen-containing, central tendon of the diaphragm has not yet been established.