BBS1 and Bardet-Biedl syndrome: The type of mutation varies among ethnic groups, with the most common BBS1 variant (p.M390R) accounting for approximately 80% of all BBS1 mutations in the European population.[23,24] Mykytyn et al[25] conducted genetic screening on 129 patients with BBS and found that 30% of these patients possessed at least 1 M390R mutation.