Results of a multicenter registry for congenital cytomegalovirus infection in Flanders, Belgium: From prenatal diagnosis over neonatal management to therapy.

Background: In 2006, a consensus was made on management and follow up of children with congenital cytomegalovirus infection (cCMV) in Flanders, Belgium. Since 2007 systematic registration of those children was initiated. In this report, focus is on the perinatal data of our population.

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.

Purpose: To characterize new molecular factors implicated in a hereditary congenital facial paresis (HCFP) family and otosclerosis.

Methods: We performed exome sequencing in a four-generation family presenting nonprogressive HCFP and mixed hearing loss (HL). MEPE was analyzed using either Sanger sequencing or molecular inversion probes combined with massive parallel sequencing in 89 otosclerosis families, 1604 unrelated affected subjects, and 1538 unscreened controls.