Three different missense substitutions in CEMIP, NM_001293298.2: c.559C>T (p.R187C), c.560G>A (p.R187H) and c.2347C>T (p.H783Y) were identified; two (R187C and R187H) were found in familial cases of hearing loss and one (H783Y) was found in a sporadic case of hearing loss [71]. Here, CEMIP is linked to hearing loss disorder.