In humans, mutations in several centrosomal proteins, such as PCTN, STIL, CEP152, CEP135, CEP63 and CENPJ, have been associated with autosomal primary recessive microcephaly (MCPH), Majewski Osteodysplastic Primordial Dwarfism type II and Seckel syndrome15, 16, 17, 18, 19, 20, 21. The gene discussed is CEP135; the disease is autosomal recessive primary microcephaly.