Oral-Facial-Digital Syndrome Type VI: is C5orf42 Really the Major Gene?

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Aims: Oral-facial-digital type VI syndrome (OFDVI) is a rare phenotype of Joubert syndrome (JS). It is defined by the “molar tooth sign” with at least one of the followings: (1) tongue hamartoma and/or additional lingual frenula and/or upper lip notch; (2) mesoaxial polydactyly; and (3) hypothalamic hamartoma. Recently, C5orf42 was suggested as the major OFDVI gene, being mutated in 9 (12 patients) of the 11 families (82%). In this study, we aimed to (1) elucidate the prevalence of C5orf42 mutations in our cohort of OFDVI patients and (2) verify if C5orf42 is the major gene associated with OFDVI.