AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis

Several authors have previously described a syndrome consisting of Alport Syndrome, intellectual disability, midface hypoplasia and elliptocytosis due to a large deletion involving the X chromosome. Previously published cases all had deletions of the X chromosome involving between 6 and 11 genes. We describe two maternal half-brothers who have very similar extra-renal features including midface hypoplasia, intellectual disability and elliptocytosis due to a single base-pair substitution in AMMECR1, a gene within the region of the X chromosome deleted in the previously described cases. Functional studies confirmed that the mutant protein is abnormally distributed within the nucleus of cultured cells. (By Dr. Rodney Gilbert, http://jmg.bmj.com/content/early/2016/11/03/jmedgenet-2016-104100 )