Arhinia, or absence of the nose, is a rare malformation of unknown etiology that is often
accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia
revealed that 84% of probands harbor a missense mutation localized to a constrained
region of SMCHD1 encompassing the ATPase domain. SMCHD1 mutations cause
facioscapulohumeral muscular dystrophy type 2 (FSHD2) via a trans-acting loss-of-function
epigenetic mechanism. We discovered shared mutations and comparable DNA …

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated
arhinia and Bosma arhinia microphthalmia syndrome – Profiles — University of Edinburgh
Research Explorer … MRC Human Genetics Unit … MRC Human Genetics Unit …