C5orf42 is the major gene responsible for OFD syndrome type VI

  title={C5orf42 is the major gene responsible for OFD syndrome type VI},
  author={Estelle Lopez and Christel Thauvin-Robinet and Bruno Reversade and Nadia El Khartoufi and Louise Devisme and Muriel Holder and H{\'e}l{\`e}ne Ansart-Franquet and Magali Avila and Didier Lacombe and Pascale Kleinfinger and Irahara Kaori and Jun-Ichi Takanashi and Martine Le Merrer and Jelena Martinovic and Catherine No{\"e}l and Mohammad Shboul and Lena Ho and Yeliz G{\"u}ven and F{\'e}r{\'e}cht{\'e} Razavi and Lydie Burglen and Nad{\`e}ge Gigot and V{\'e}ronique Darmency-Stamboul and Julien Thevenon and Bernard Aral and H{\"u}lya Kayserili and Fr{\'e}d{\'e}ric Huet and Stanislas Lyonnet and C{\'e}dric Le Caignec and Brunella Franco and Jean-Baptiste Rivi{\`e}re and Laurence Faivre and Tania Atti{\'e}-Bitach},
  journal={Human Genetics},
Oral-facial-digital syndrome type VI (OFD VI) is a recessive ciliopathy defined by two diagnostic criteria: molar tooth sign (MTS) and one or more of the following: (1) tongue hamartoma (s) and/or additional frenula and/or upper lip notch; (2) mesoaxial polydactyly of one or more hands or feet; (3) hypothalamic hamartoma. Because of the MTS, OFD VI belongs to the “Joubert syndrome related disorders”. Its genetic aetiology remains largely unknown although mutations in the TMEM216 gene… CONTINUE READING