PAX1 and otofaciocervical syndrome 1: In addition, whole-exome sequencing (WES) of a single pooled DNA sample of four affected individuals in a large consanguineous family with otofaciocervical syndrome (OTFCS) from Turkey, with cup-shaped ears, bilateral mixed hearing loss, bilateral preauricular fistulas, lacrimal duct abnormalities, protruding shoulders, and winged scapulae, identified a homozygous variant (c.497G>T), substituted the glycine at position 166 to valine (p.G166V) within the highly conserved paired-box domain (Figure 1), leading to a significantly reduced transactivation activity of PAX1 (Pohl et al., 2013).